Young Epilepsy - Paediatric Report 2021

Paediatric Epilepsy Research and Impact Report 2021
youngepilepsy.org.uk


Contents
Introduction 1 Who We Are 2
Research Partners 2
What We Do 4
Research Strategy 4
Research Projects 7
Key Projects 8 Current Projects 12 Completed Projects 19
Impact Of Our Research 21
Current & Past Impact 22 Meeting Of Our Research Goals 24 Strength Of The Evidence We Publish 26 Research Impact Stats 2021-2022 28 Importance of PPI 29
Further Activities 31
Young Epilepsy Research Retreat 2021 31 Research Funding 32
Researchers 33 Research Publications 38 We Need You 44 Glossary 45


Introduction
I am delighted to present our annual research and impact report for the period July 2020 to June 2021 for the paediatric epilepsy research unit across Young Epilepsy, UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children.
Paediatric Epilepsy Research Report 2021
COVID19 has continued to disrupt all aspects of our lives, including how we have been able to conduct research and continue projects. Several projects have been delayed, whilst others were adapted to the restrictive and online environment. Congratulations to all who have been able to adapt and continue! During this period, we had 46 active projects spanning the clinical, educational, and social elements of paediatric epilepsy. We have published 99 peer-reviewed items of primary research with a further 3 chapters in books.
In September we saw the launch of the Young Epilepsy Diagnostic Imaging Suite, incorporating the OPM- MEG. This development, in collaboration with UCL
and Nottingham Universities, will enable detailed neurophysiological evaluation of a much younger and challenging population of children with epilepsy than before. Young Epilepsy exists to create a society where children and young people with epilepsy are enabled to thrive and fulfil their potential. A society in which their voices are respected, and their ambitions realised.
We were also excited to become part of the initial project of the IPCHiP consortium, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health (UK) working with Boston Children’s Hospital (US), Royal Children’s Hospital Melbourne and Murdoch Children’s Research Institute (Australia), and The Hospital for Sick Children (“Sick Kids”, Canada), aiming to determine the impact of early genetic diagnosis in children presenting with epilepsy in the first year of life.
In January 2021 we held our 11th International Paediatric Epilepsy Research Retreat for researchers and collaborators across the unit. The Retreat is a one-of-a-kind event where early career and seasoned
researchers meet to constructively share their research and forge collaborations. In view of the continuing pandemic this was held virtually but we still attracted in excess of 150 participants. This was moderated
on day one by Professor Finbar O’Callaghan from UCL, and on day two Professor Sameer Zuberi from Glasgow. Despite the virtual format there was still a fantastic array of high-quality presentations and interaction from participants.
However, despite the successes of the year, we also saw the loss of a great friend and colleague, William Harkness, emeritus consultant neurosurgeon at Great Ormond Street Hospital for Children. William and I led the development of the epilepsy surgery programme into one of the leading services worldwide. He always recognised the benefits of multidisciplinary team working, understanding the impact of the condition and the contribution of institutions & charities such as Young Epilepsy. Indeed, in 2005 he initiated and participated in a trek in Nepal to raise money for
the charity. He was a keen advocate of research and recognised the merits of the developments across the epilepsy research network. That said, whilst epilepsy surgery is where he had his greatest scientific impact, he was a consummate paediatric neurosurgeon
who thought deeply and wrote on a wide range of conditions. William was known to be an exceptionally skillful surgeon, with many neurosurgical trainees citing him as one of the leading technical neurosurgeons they had worked with. We shall miss him greatly.
You will see that we have improved the format of this year’s report to make it easier to read. This includes
a link on page seven for those of you interested
in finding out more detail on any of the individual research projects summarised in that section.
Our research programme exists to establish successively better outcomes by driving early diagnosis and intervention in every aspect of childhood epilepsy, and I do hope you enjoy reading this report.
Professor Helen Cross OBE
The Prince of Wales’s Chair of Childhood Epilepsy
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Coordination Governance Fundraising Expertise Dissemination Practice
The Prince of Wales’s Chair of Childhood Epilepsy
Paediatric Epilepsy Research Report 2021
Who We Are
Research Partners
Led by the Prince of Wales’s Chair of Childhood Epilepsy*, Professor Helen Cross, our research programme is a collaborative scheme between Young Epilepsy, Great Ormond Street Hospital and UCL GOS - Institute of Child Health.
Collaboration and integrated working across the partner organisations puts us in a unique position to incorporate data which spans:
The entire range of complexity and comorbidity in epilepsy
All stages of diagnosis and care
The full age range, from neonates to young adults
Multidisciplinary expertise to improve holistic understanding of epilepsy and service design.
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Clinical Translation Patient Recruitment Clinical Practice Expertise Fundraising
The UK’s only paediatric Biomedical Research Centre
Governance Expertise Knowledge-sharing Education Laboratories
* The Prince of Wales Chair of Childhood Epilepsy is jointly grant funded by the GOSH charity and Young Epilepsy


Paediatric Epilepsy Research Report 2021
Young Epilepsy exists to create a society where children and young people with epilepsy are enabled to thrive and fulfil their potential. A society in which their voices are respected and their ambitions realised.
Under our four key offers; information, health, learning and research, we aim to:
Equip young people with knowledge and promote public awareness
Drive improvements in healthcare and advocate for young people’s right to the highest standards of health
Deliver innovative education services and advocate for young people with epilepsy’s right to an education
Coordinate and fund research into the causes, treatments and impact of childhood epilepsy
Great Ormond Street Hospital for Children (GOSH) is an international centre of excellence in child healthcare, at the forefront of paediatric training in the UK. Together with UCL GOS - Institute of Child Health, GOSH forms the UK’s only Biomedical Research Centre specialising in paediatrics. Most of the children we care for are referred from other hospitals throughout the UK and overseas. There are 63 different clinical specialties at GOSH; the UK’s widest range of specialist health services for children on one site. 60% of the UK’s epilepsy surgeries are carried out at GOSH.
University College London Great Ormond Street-Institute of Child Health (ICH)
together with its clinical partner Great Ormond Street Hospital for Children (GOSH), forms the largest concentration of children’s health research in Europe.
The inspirational mission of the UCL Great Ormond Street Institute of Child Health is to “improve the health and well-being of children, and the adults they will become, through world-class research, education and public engagement”.
The academic strategy of GOS ICH is focused on five scientific research and teaching departments:
Developmental Biology and Cancer
Developmental Neurosciences
Genetics and Genomic Medicine
Infection, Inflammation and Immunology 3 Population Policy and Practice


Research into Childhood Epilepsy
Fund
Paediatric Epilepsy Research Report 2021
What We Do
Reseasrch Strategy
Our research programme exists to ensure the best outcome for every child by optimising diagnosis, treatment, and support for all aspects of childhood epilepsy.
Coordinate
Translate
Translate
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Workstream 1: Understanding Childhood Epilepsies
Around half of people diagnosed with epilepsy never learn the cause of it. This is concerning from both the personal and clinician perspective. The more we know about what causes epilepsy and how else the underlying cause is affecting the individual patient, the better clinicians can manage and treat, and the better the patient can understand themselves.


GOAL 01
Gain a better understanding of the medical causes of epilepsy
22% projects currently contribute to this goal
GOAL 02
Gain a better understanding of how epilepsy affects development and behaviour
23% projects currently contribute to this goal
The majority of epilepsy treatment is symptomatic. The more we know about the underlying causes of the epilepsies, the more chance there is of developing curative, targeted treatments. Under this goal we run:
Cohort studies to evaluate prevalence, natural history
and outcome of comorbidities
Experimental animal model studies* to examine the effects of epileptiform discharges on development
Studies to determine the molecular or genetic basis to the epilepsies Correlative neurophysiology and neuropsychology studies Collaborative outcome studies
Epilepsy is associated with myriad comorbidities. Evidence suggests that the effects of these comorbidities have a greater impact than seizures over the course of someone’s life. This work will help us to understand how to treat epilepsy holistically.
Cohort epidemiological studies to determine incidence, prevalence and outcome
Population and family studies to gain further insights into new treatments
Enhanced structural studies using neuroimaging to increase detection of structural correlates
Correlative studies in neurophysiology to enhance detection of origin Pathological examination of tissue from surgical specimens to enhance our understanding of structural correlates and related epileptogenesis
Paediatric Epilepsy Research Report 2021
Workstream 2: Outstanding Treatment
Epilepsy treatments have not changed very much over time and the process of finding the right combination of treatments for each patient takes a long time. This is very hard on patients – especially if they are young. Continued advancement of imaging, surgery, dietetics, genomics and targeted treatment, and new medicines is crucial in the quest to effectively treat, and one day perhaps cure, every epilepsy.
GOAL 03
Improving diagnosis and treatment to determine the benefits of early interventions in improving long-term outcomes
28% projects currently contribute to this goal
The longer one has epilepsy, the longer its underlying cause is able to threaten or cause damage. Effective diagnostic processes, optimal treatments and early intervention are vital in slowing or halting any damage.
Short and long-term evaluation of outcome following early epilepsy surgery Evaluation of new medical treatments
Evaluation of educational intervention
Correlative neurophysiology and neuropsychology studies
Novel diagnostic and imaging methods
* The welfare of animals used in research is very important to Young Epilepsy, GOSH and ICH. Researchers would prefer not to use animals at all so we follow the guidance of the Association of Medical Research Charities. These principles are called the 3Rs:
• Replace the use of animals with alternative techniques or avoid the use of animals altogether.
• Refine the way experiments are carried out, to make sure animals suffer as little as possible. This includes better
housing and improvements to procedures which minimise pain and suffering and/or improve animal welfare.
• Reduce the number of animals used to a minimum by seeking ways to find out information from fewer animals or
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more information from the same number of animals.


GOAL 04
Gain a better understanding of barriers to learning and determine the benefits of educational interventions.
5% current projects contribute to this goal
GOAL 05
Make life better for children and families and make support systems more effective
18% projects currently contribute to this goal
GOAL 06
Develop a network
of multidisciplinary professionals to strengthen our research and shape the education of future practitioners
5% projects currently contribute to this goal
Paediatric Epilepsy Research Report 2021
Workstream 3: Outstanding Support
This workstream is set to tackle the wider challenges associated with growing up with epilepsy and in treating childhood epilepsies. It is important to know what epilepsy is and how to treat it but if the systems and supports are not in place to act on this knowledge then patients cannot benefit.
We know that epilepsy can affect the way people learn and therefore may significantly affect someone’s academic achievement if not properly understood. We want to know exactly what the challenges are and how best to support children with epilepsy in education:
Evaluation of measures of progress in children with severe impairments Evaluation and development of targeted educational interventions across all educational settings
Evaluating and enhancing the understanding of professionals working with children with epilepsy
Childhood epilepsy can affect the whole family and treatment must involve multiple disciplines and agencies. Support for families must be evidenced and treatment pathways must be made more efficient and the family voice should be reflected in research. Evidencing these needs allows service providers to plan more effective services:
Patient and public inclusion and representation in research design and management
Interventional behaviour programmes
Rehabilitation and follow-up studies
Assessment of service provision
Evaluation of the impact of epilepsy on family life Evaluation of the economic costs involved in epilepsy care
To ensure the continuation of excellent research in paediatric epilepsy by nurturing future talent and continually improving knowledge:
Development of training fellowships
Projects working towards higher degrees with encouragement for independent working thereafter
Joint working between ICH, GOSH and Young Epilepsy
Enhancing research and interoperability across all areas of expertise Providing specialist education events and networking opportunities
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Summary of Research Projects
This section provides a brief overview of two key projects from this year’s work. This is followed by a summary list of the current and competed projects during July 2020 to June 2021.
The projects are presented under the workstream they most contribute to.
To find out more details about each of these projects please visit:
www.youngepilepsy.org.uk/ for-professionals/research
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Anyone interested in finding out more or to arrange a visit to the centre should contact:
Rosemarie Pardington
Director of Integrated Care
[email protected]
Paediatric Epilepsy Research Report 2021
Key Projects
Launch of the Young Epilepsy Diagnostic Suite
On 30 September 2021, as a result of our incredible Research Programme, Young Epilepsy were delighted to officially
open its new Young Epilepsy Diagnostic Centre in Lingfield, Surrey. Holding centre stage in the new suite is the world’s
first wearable Optically Pumped (OPM) magnetoencephalography (MEG) unit within a lightweight magnetically shielded room (Mu-Room), which has developed from the earlier research project.
The overarching goal of the Young Epilepsy Diagnostic Suite is to offer world leading clinical neuroimaging technology in a comfortable and seamless environment for patients and their families.
Following completion of clinical evaluation, the plan is for the new technology to become part of the routine clinical offer at the Young Epilepsy Diagnostic Centre and thereby provide a service that was previously inaccessible in paediatrics.
By offering a non-clinical environment and more comfortable treatment, the new Diagnostics Suite will allow clinicians to scan different parts of the brain, resulting in better diagnosis.
Due to its more child friendly set-up, the technology will also be crucial in evaluating the suitability of young patients for brain surgery
at an earlier age and will provide much more accurate data for brain surgery, which will result in better outcomes for patients, potentially beneficially affecting rehabilitation times. Subject to the outcome of the full clinical evaluation, the aim is for the OPM-MEG to be part of the Young Epilepsy health offer by the end of 2022.
The primary outcome of this project is to provide clinicians with a novel technology which informs earlier and more accurate interventions for children with epilepsy. As we are aware, epilepsy has enormous impact on a person’s life and is usually present with additional developmental needs. The longer a child has uncontrolled seizures, the more
likely there will be an impact in the longer term. Therefore, early, accurate intervention is critical to improving patient outcomes and quality of life in childhood epilepsy.
From a pure research perspective, this OPM-MEG technology will offer ground-breaking opportunities for research to continue pushing boundaries in medical sciences to further epilepsy investigations. However, the facility will also be available for researchers keen to explore the numerous applications of this new technology in fields such as cardiology, head and sports injuries etc.
The Diagnostic Centre will be available to hire during allocated times, for PHD students and other researchers to conduct their investigations.
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The World’s first wearable Optically Pumped (OPM) Magnetoencephalography (MEG) unit within a lightweight magnetically shielded room (Mu-Room)
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Paediatric Epilepsy Research Report 2021
Shortening the Time of Evaluation in Paediatric epilepsy Services
Investigators: Amy McTague, Helen Cross, Lyn Chitty, Neil Sebire
With: Annapurna Poduri (Boston Childrens), Katherine Howell, Ingrid Scheffer (Royal Childrens Hospital Melbourne), Gregory Costain, Vann Chau (The Hospital for Sick Children Toronto)
This is the first project of the IPCHiP (International Precision Child Health Partnership) consortium. This consortium has been established by four of the world’s leaders in child health research and care— Boston Children’s Hospital (US), Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health (UK), Royal Children’s Hospital Melbourne and Murdoch Children’s Research Institute (Australia), and The Hospital for Sick Children (“Sick Kids”, Canada). Together, they are sharing expertise, knowledge, and data to tackle and solve major child health challenges with a focus on rare diseases. Individually these diseases are uncommon, but collectively they affect up to six per cent of the global population—about 300 million people. For families, getting to the point of diagnosis is costly in time, money, stress, and emotion.
With whole genome sequencing and other technologies, we can transform how we diagnose and treat these devastating diseases. For too many children though, these approaches remain out of reach because they’re not yet standard care or funded by government. Gene- STEPS is a study of the impact of rapid genomics to diagnose severe forms of epilepsy in babies. This three-year study has the potential to transform lives for babies with epilepsy—and
to establish a model that can be used to rapidly diagnose and treat other diseases in childhood.
In the past decade, the genomic revolution has led to the identification of underlying genetic aetiologies for childhood epilepsy, in the form
of monogenic disorders affecting ion channels, neurotransmitter receptors, synaptic proteins, and other families of proteins. In a growing number of cases, the specific genetic diagnosis informs prognosis and genetic counselling. This leads to the opportunity to participate in natural history studies, and to changes in treatment that, to date anecdotally, may change outcomes in seizures and in neurodevelopment. However, a major challenge in clinical practice is that early intervention requires early diagnosis.
Currently the diagnostic odyssey in early-onset epilepsy is long and arduous for patients and their families. The timing and nature of genetic testing for such patients varies widely within and across countries and institutions. Our collective expertise includes epilepsy genetics research, genomic research, clinical epilepsy, clinical
trials, and team science across the four leading paediatric institutions in the IPCHiP Consortium. Each of our institutions has a proven track record of discovery and translation to patients, and
our combined efforts in epilepsy will set a new standard for multi-institutional research, data sharing, and improvement.
Key Projects
Gene-STEPS


To investigate our hypothesis that rapid genetic diagnosis and tailored management could improve outcomes, we propose a novel approach to streamline and accelerate diagnostics in these severely affected children. We will evaluate children at diagnosis of epilepsy and institute rapid genome sequencing (result within 21 days).
This may direct more appropriate treatments that will be implemented; outcomes will then be evaluated after 12m.
Zayed Centre for Research into Rare Disease in Children
Paediatric Epilepsy Research Report 2021
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Current Projects
Workstream 1- Understanding Childhood Epilepsies
1. Functional effects of SCN1A mutations New insights from biophysics and computational modelling
Project Aim: Linking functional properties of SCN1A miss-sense mutations with their resultant phenotypes.
Investigators: Richard Rosch, Elaine Hughes, Kathleen Gorman, Colin Peters, Peter Ruben
2. Neuro-Link: Determining long-term outcomes in children with chronic neurological conditions (ICH Data science initiative)
Project Aim: Determine the long-term health outcomes of children treated at GOSH in three well- defined cohorts via data linkage with The Hospital Episode Statistics (HES) database.
Investigators: Jessica Pickles, Deborah Ridout, Torsten Baldeweg, Darren Hargrave, Thomas Jacques, Katie Harron, Vandana Ayyar Gupta, Francesco Muntoni
3. Gene-STEPS: Shortening Time of Evaluation in Paediatric epilepsy Services: a multi-centre prospective evaluation of the impact of early genetic diagnosis on patient outcomes
Project Aim: To implement rapid trio WGS for all children, utilise electronic healthcare records and research databases to unite phenotypic and genomic data and assess the impact of early genetic diagnosis on epilepsy, developmental, and health economic outcomes through formal longitudinal assessments of all children enrolled.
Investigators: Amy McTague, Helen Cross, Lyn Chitty, Neil Sebire
With: Annapurna Poduri (Boston Childrens), Katherine Howell, Ingrid Scheffer (Royal Childrens Hospital Melbourne), Gregory Costain, Vann Chau (The Hospital for Sick Children Toronto)
4. Shining a light on the genetic basis of Sunflower syndrome
Project Aim: Investigate the genetic basis of this rare photosensitive epilepsy.
Investigators: Amy McTague, Manju Kurian
5. Multicentre Epilepsy Lesion Detection (MELD) Project
Project Aim: Create open-access, robust and generalisable tools for understanding and detecting focal cortical dysplasias (FCDs) that can assist the pre-surgical evaluation of patients with drug- resistant epilepsy.
Investigators: Sophie Adler-Wagstyl, Kirstie Whitaker, Armin Raznahan, MELD consortium,Helen Cross, Torsten Baldeweg, Konrad Adler-Wagstyl
Paediatric Epilepsy Research Report 2021


6. Modelling childhood genetic epilepsies in zebrafish larvae
Project Aim: Identifying whole-brain network dysfunction at single neuron resolution in larval zebrafish models of genetic epilepsies
Investigators: Richard Rosch, Dominic Burrows, Jade Lau, Martin Meyer
7. Autism spectrum diagnosis (ASD) and epilepsy
Project Aim: The assessment of autism for children with complex epilepsy poses many challenges; from fluctuating profiles to diagnostic overshadowing and atypical presentations. This project reviews the issues involved by drawing on more than 20 years’ experience of neurodevelopmental assessment of children with complex epilepsy at GOSH.
Investigators: Harriet Holmes, Francesca Sawer, Maria Clark
8. The neuropathology of focal epilepsy in children
Project Aim: To understand the biology underlying the diseases that cause focal epilepsy. Investigators: Tom Jacques, Helen Cross, Martin Tisdall, Darren Hargrave
9. Memory profile and reorganisation after epilepsy surgery in children with intractable Temporal Lobe Epilepsy (TLE)
Project Aim: To characterise the memory profile of children and young people and depict functional and structural reorganisation of memory networks in temporal lobe epilepsy before and after surgery, using functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) magnetic resonance. Investigators: Filipa Bastos, Faraneh Vargha-Khadem, Helen Cross, Jonathan Clayden, Sarah Buck
10. The genetics of early onset epileptic encephalopathy
Project Aim: The project aims to identify novel early onset epileptic encephalopathy genes which will contribute to the understanding of the disease mechanisms involved in such epilepsies. Investigators: Amy McTague, Helen Cross, Dimitri Kullmann, Rod Scott, Manju Kurian
11. A natural history of Pyruvate Dehydrogenase Complex deficiency
Project Aim: To describe the natural history of Pyruvate Dehydrogenase Complex (PDC) deficiency from childhood to adulthood, including the spectrum of molecular diagnoses in affected patients. Investigators: Nandaki Keshavan, Shamima Rahman
12. Development in Hypothalamic Hamartoma
Project Aim: To review the developmental profiles of children with hypothalamic hamartoma in relation to their medical presentation and treatment.
Investigators: Hanna Richardson, Leah Bull, Varsha Siyani
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Paediatric Epilepsy Research Report 2021


Paediatric Epilepsy Research Report 2021
13. Novel network analysis of intracranial stereoelectroencephalography (SEEG)
Project Aim: To characterize interictal abnormalities in single unit neural dynamics and to establish whether the regions that display abnormal dynamics are consistent with the epileptogenic zone. Investigators: Rod Scott, Martin Tisdall, Aswin Chari, Rachel Thornton
14. Multiscale modelling of epileptic networks from SEEG recordings
Project Aim: Epilepsy surgery aims to change epileptic brain networks in a way that will reduce the likelihood of future seizures.
Investigators: Richard Rosch, Rachel Thornton, Martin Tisdall, Karl Friston, Ulrich Stoof
15. Landau-Kleffner syndrome: Patterns in the recovery phase
Project Aim: A retrospective case note review examining cognitive and language trajectories across different phases of Landau-Kleffner syndrome (LKS).
Investigators: Maria Clark, Christina Hawkins, Gemma Wilson, Harriet Holmes
16. Non-invasive modulation of brain network dynamics to suppress epileptic activity and improve cognition (EPICONN TM)
Project Aim: A pilot study to measure a reduction in epileptiform activity associated with transcranial electrical stimulation (TES).
Investigators: David Carmichael, Frederike Moeller, David Sharp, Helen Cross, Mirja Steinbrenner, Martin Tisdall, Mark Richardson, Ines Violante, Rory Piper
17. Epilepsy in Infancy: relating phenotype to genotype (EPIPEG)
Project Aim: To identify and follow-up a cohort of children with new onset of epilepsy under
12 months of age to enable definition of neurobehavioural phenotypes; identify risk factors for neurodevelopment and later intellectual disability.
Investigators: Helen Cross, Manju Kurian, Rod Scott, Christin Eltze, Finbar O’Callaghan, Michelle De Haan, Elaine Hughes, Jane Kung, Manuela Pisch, Katy Barwick, Aikaterini Vezyroglou
18. Realising the potential of 7T MRI for paediatric imaging
Project Aim: To enable the first 7 Tesla (7T) magnetic resonance imaging (MRI) of paediatric patients with epilepsy being evaluated for surgery at GOSH and Kings College London Hospital (KCLH). Investigators: David Carmichael, Helen Cross, Martina Callaghan, Shaihan Malik, Thomas Booth, Sila Dokumaci, Fred Dick, Dr Simon Richardson, Serena Counsell, Alex Hammers, Jonathan O’Muircheartagh
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Paediatric Epilepsy Research Report 2021
Workstream 2 – Outstanding Treatments
19. The CADET Trial: The Children’s Adaptive Deep brain stimulation for Epilepsy Trial
Project Aim: To determine the efficacy of DBS in reducing seizure frequency in children with Lennox Gastaut Syndrome.
Investigators: Martin Tisdall, J Helen Cross, Hakim-Moulay Debhi, Tim Denison, Harutomo Hasegawa, Elaine Hughes, Marios Kaliakatsos, Kei Landin, Rory Piper, Ali Resaei Haddad, Richard Sleway, Ioannis Stavropoulos, Antonio Valentin
20.Wearable magnetoencephalography (MEG) at Young Epilepsy
Project Aim: To develop a new Epilepsy Diagnostic Suite at Young Epilepsy centered around the installation and evaluation of the OPM-MEG technology.
Investigators: Rosemarie Pardington Gareth Barnes, Helen Cross, David Woolger, Richard Bowtell, Matthew Brookes, Tim Tierney, Torsten Baldeweg, Konrad Wagstyl, Richard Rosch
21. Development of a lifespan compliant magnetoencephalography system
Project Aim: Build an OP-MEG system for children aged 0-15years, that will offer direct clinical applicability, increased practicality, better data, and lower cost compared to current systems. Investigators: Amy McTague, Helen Cross, Lyn Chitty, Neil Sebire
With: Matthew Brookes, Richard Bowtell Gareth Barnes, Helen Cross, Rosemarie Pardington
22. MELD (Multi-centre Epilepsy Lesion Detection) as an Adjunct for SEEG Trajectories (MAST) trial
Project Aim: Assess the utility of a novel machine learning algorithm in helping to plan electrode trajectories in children undergoing stereoelectroencephalography (SEEG).
Investigators: Sophie Adler, Konrad Wagstyl, Aswin Chari, Zubair Tahir, Martin Tisdall
23. Modelling neuronal dysfunction in early onset epilepsies; a patient-centric approach
Project Aims:
To create and characterise a patient-derived induced pluripotent stem cell (iPSC) organoid model Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
To investigate the neuronal phenotype of EIMFS at a cellular and network level
To investigate the impact of novel therapies
Investigators: Amy McTague, Dimitri Kullmann, Gabriele Lignani, Jenny Lange, Manju Kurian 24. The infant baby enrichment research programme (ENRICH)
Project Aim: To explore the possibility of measuring the cortical response from the scalp of infants using standard non-invasive EEG techniques, due to the activation of C Tactile (CT) afferents and how the cortical response changes in regard to age.
Investigators: Ronit Pressler, Geraldine Boylan
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25. A multicentre, open-label, single-arm study to evaluate the pharmacokinetics, efficacy, and safety of Brivaracetam in neonates with repeated electroencephalographic seizures (PETITE)
Project Aim: To evaluate the pharmacokinetics of Brivaracetam in neonates who have seizures that are not adequately controlled with phenobarbital treatment and to identify the optimal Brivaracetam dose (Exploratory Cohort) for the treatment of subjects enrolled into the Confirmatory Cohorts of this study. Investigators: Ronit Pressler, Marios Kaliakatsos
26. Is pyridox(am)ine 5’-phosphate oxidase deficiency, an eminently treatable cause of epilepsy, under-recognised in children?
Project Aim: To improve diagnosis and treatment of children with pyridox(am)ine 5’-phosphate oxidase (PNPO) deficiency by using a novel rapid screening dry blood spot assay.
Investigators: Peter Clayton, Philippa Mills, Helen Cross, Ronit Pressler
27. Ketogenic diet in Infants With Epilepsy (KIWE)
Project Aim: This is a randomised controlled trial to determine the effectiveness on seizure control of the ketogenic diet compared to alternative further antiepileptic drug treatment. Patients are children with epilepsy aged 1 month to 2 years who have failed to respond to two or more pharmacological treatments. Investigators: Helen Cross, Laura Lyons, Sally Halsall, Natasha Schoeler, Maryam Balogun, Christin Eltze, Simon Heales, Helen McCullagh, Rachel Kneen, Tim Martland, Jeen Tan, Andrew Mallick, Andrew Lux, Alasdair Parker, Helen McCullagh, Archana Desurkar, Penny Fallon, Helen Basu, Anita Devlin, Rajib Samanta, Shakti Agrawal, Manish Prasad, Rohini Rattihalli, Elma Stephen, Andreas Brunklaus, Martin Kirkpatrick, Ailsa McLellan, Nick Freemantle, Louise Marston, Irwin Nazareth
28. The “Pair Test”: an App to diagnose learning and memory impairments in children with Temporal Lobe Epilepsy
Project Aim: To provide better informed diagnosis of memory impairments in children with epilepsy and predict outcome after surgery in the temporal lobe, using the Pair Test.
Investigators: Sarah Buck, Torsten Baldeweg, Filipa Bastos, Faraneh Vargha-Khadem
29. Realising the potential of 7T MRI for paediatric imaging
Project Aim: To enable the first 7 Tesla (7T) magnetic resonance imaging (MRI) of paediatric patients with epilepsy being evaluated for surgery at GOSH and Kings College London Hospital (KCLH). Investigators: David Carmichael, Helen Cross, Martina Callaghan, Shaihan Malik, Thomas Booth, Sila Dokumaci, Fred Dick, Dr Simon Richardson, Serena Counsell, Alex Hammers, Jonathan O’Muircheartagh
30.Antisense oligonucleotides for the treatment of ALDH7A1-deficiency
Project Aim: A proof of principal project to show that antisense oligonucleotide therapy can prevent the accumulation of the toxic metabolites that occur in patients with a-aminoadipic semialdehyde dehydrogenase (ALDH7A1) deficiency, a vitamin B6-dependent epilepsy disorder.
Investigators: Philippa Mills, Haiyan Zhou, Paul Gissen
Paediatric Epilepsy Research Report 2021


Workstream 3 – Outstanding Support
31. Epilepsy Carers Uniting with Researchers (E-Cure) PPI network
Project Aim: Strengthen the voice of children and young people with epilepsy in our research by establishing the UKs first network of parents, carers and young people who volunteer to shape childhood epilepsy research. Investigators: Amy Muggeridge, Samantha Chan, Amy McTague, Helen Cross
32. Epilepsy Pathway Innovation in Africa (EPInA)
Project Aims:
To improve rate of accurate diagnosis of epilepsy by refining app-based technologies Treatment: increase the adherence to medication using text messaging
Societal change: ensure an enduring, positive change by improving public awareness and reducing the stigma experienced by people with epilepsy in sub-Saharan Africa
Prevent: reduce the incidence of infection and peri-natal injury in an endemic region in Tanzania
and the subsequent risk of epilepsy
Investigators: Charles Newton, Helen Cross, Arjune Sen, David McDaid, Albert Akpalu, Damazo Kadengye, Gershim Asiki, Patrick Adjei, Sloan Mahone, Symon Kariuki, Tarun Dua, Thomas Kwasa, Mohammed Mnacho, John Geddes, Josemir Sander, Richard Walker, William Matuja
33. European Reference Network on rare and complex epilepsies (EpiCARE)
Project Aims:
To improve accessibility of detailed diagnostics to individuals of all ages with rare and complex epilepsies across Europe, including clinical evaluation and investigation
To develop treatment protocols and monitor standardised outcomes of rare and complex epilepsies To improve awareness and accessibility to protocols for physicians and individuals with rare and complex epilepsies across Europe for treatment
To enhance educational activities and training opportunities across Europe by interchange across the network
To enhance opportunities for registries, and collaborative research for the benefit of individuals with rare and complex epilepsies across Europe
34. Prevention of Epilepsy by reducing Neonatal Encephalopathy (PREVENT) study
Project Aim: To examine a care bundle approach to improve the maternal care around delivery to reduce number of babies sustaining serious birth related brain injury and epilepsy.
Investigators: Sudhin Thayyil, Helen Cross, Ronit Pressler, and many more
35. Mental Health in Children with Epilepsy (MICE)
Paediatric Epilepsy Research Report 2021
Project Aim: Establish the feasibility of routine screening and brief telephone intervention for mental health disorders in paediatric neurology clinics so children and young people with difficulties can access the support they need.
Investigators: Roz Shafran, Helen Cross, Sophie Bennett, Sarah Byford, Bruce Chorpita, Anna Coughtrey, Emma Dalrymple, Caroline Dore, Peter Fonagy, Tamsin Ford, Isobel Heyman, Rona Moss- Morris, Colin Reilly, Jonathan A Smith, Terence Stephenson, Sophia Varadkar
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Paediatric Epilepsy Research Report 2021
36. Assessment of profound intellectual disability in complex epilepsy
Project Aim: To develop a robust assessment tool for children with complex epilepsy.
Investigators: Maria Clark, Gemma Wilson, Lucy Pepper 37. Physical Activity in Childhood Epilepsy (PACE)
Project Aim: To compare levels of physical activity in secondary school-aged children with ‘active’ epilepsy, and matched healthy controls, using both survey methods and activity trackers. To better understand factors which may be associated with physical activity, including structured exercise/ sports participation, in children with epilepsy. By gathering this pilot data explore the feasibility of implementing an intervention to improve levels of physical activity in children with epilepsy. Investigators: Colin Reilly, Emma Johnson, Helen Cross, Lauren Sherar, Monica Lakhanpaul, Kerry Robinson, Amit Bali, Patricia Atkinson, Natalie Pearson, Kathryn Simpson
38. PsyKD - Understanding of the impact of the ketogenic diet on child and parental quality of life
Project Aim: Gain an understanding of the needs and experiences of families considering a Ketogenic Diet Therapy (KDT) and the subsequent impact of the diet on children and their parents. Investigators: Colin Reilly, Natasha Schoeler, Helen Cross, Victoria Whiteley, Anita Devlin, Christin Eltze, Emma Williams
39. The fast without the spurious: developing a system for robust and rapid simultaneous EEG-fMRI measurements
Project Aim: To develop more advanced EEG-fMRI scans that may better detect brain areas active at the start of seizures. To do this we are trying new motion-correction technology that tells the scanner where the head is using a camera and a marker attached to a dental retainer and updates the scanner accordingly. Investigators: Amy McDowell, Danilo Maziero, David Carmichael, Helen Cross, Kelly St Pier, Nikolaus Weiskopf, Mirja Steinbrenner
40.Improving Care in Epilepsy (ICE) for children, young people, and families
Project Aim: To implement an innovative model of care that improves outcomes by better reflecting the broad impact epilepsy has on the individual person, by virtue of being young person and family- centred, integrated across different sectors providing care, and measured on meaningful outcomes. Investigators: Amit Bali, Helen Cross, Monica Lakhanpaul, Kerry Robinson, Dougal Hargreaves, Christina Petropoulos
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Paediatric Epilepsy Research Report 2021
Completed Projects
Workstream 1- Understanding Childhood Epilepsies
41. Epilepsy Dossier: Autism and epilepsy: laying out the evidence
Project Aim: Undertake a systematic review of factors associated with the occurrence of epilepsy in individuals with autism.
Investigators: Colin Reilly, Sophie Bennett, Roz Shafran, Amy McTague, Emma Dalrymple, David Skuse, Neha Batru, Eleni Zarakoviti
42. Effect of paroxysmal events in early onset neurological disease on cerebral tissue oxygenation & metabolism: a NIRS pilot study
Project Aim: To better understand energy consumption during epileptic seizures.
Investigators: Helen Cross, Aikaterini Vezyroglou, Ilias Tachtsidis, Rachel Thornton, David Carmichael
43. Using new quantitative MRI tissue parameter maps to detect and delineate Focal Cortical Dysplasia (FCD) – further update
Project Aim: To develop better imaging methodology to improve detection and classification of FCD lesions. Investigators: Sara Lorio, David Carmichael, Helen Cross, Nikolaus Weiskopf, Karin Shmueli, Thomas Jacques, Chris Clark, Kling Chong, Po-Wah So, Torsten Baldeweg
19


Paediatric Epilepsy Research Report 2021
Workstream 2 – Outstanding Treatments
44.Children’s Epilepsy Surgery Service (CESS) network stereoelectroencephalography (SEEG) outcomes
Project Aim: Assess the outcomes of children undergoing SEEG across the UK.
Investigators: Aswin Chari, Rachel Thornton, Martin Tisdall & the entire CESS SEEG team
45. Early surgery for radiologically evident focal cortical dysplasia
Project Aim: Assess the proportion of children with a radiologically evident focal cortical dysplasia that become medication resistant and subsequently undergo surgery.
Investigators: Ido Ben Zvi, Noelle Enright, Aswin Chari, Christin Eltze, Martin Tisdall
Workstream 3 – Outstanding Support
46.What I Need in School (WINS) – Developing guidelines for best practice for young people with epilepsy in schools in the UK
Project Aim: To improve knowledge and information provided to education professionals to better support young people with epilepsy.
Investigators: Colin Reilly, Patricia Atkinson, Emma Johnson, Helen Cross, Amy Muggeridge
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Impact of our research
21


Paediatric Epilepsy Research Report 2021
Current & Past Impact
Between July 2020 and July 2021 the programme portfolio reached:
25% of projects contributed to the medical causes of epilepsy
23% of projects contributed to understanding how epilepsy affects development and behaviour
27% of projects contributed to improving diagnosis, treatment and early intervention
5% of projects contributed to a
better understanding of barriers to
learning and the benefits of educational interventions
16% of projects contributed
to making life better for children
and families and support systems more effective
4% of projects contributed to developing a network of multidisciplinary professionals to strengthen our research and shape the education of future practitioners
Year on year most of our projects address
Workstream 2 Outstanding Treatments
46 projects
UK’s first PPI network for childhood epilepsy with nearly
140
and continue to build on our work in
Workstream 3 Outstanding Support
members
22


2 joint funding initiatives:
Following the last year, The joint award of £30,000, co-funded by Autistica, Young Epilepsy and Epilepsy Research UK, to create a dossier of evidence to better understand autism and epilepsy, was awarded to Dr Colin Reilly. Colin works as an educational psychologist and postdoctoral researcher. During 2021 this work was completed
and published in a dossier which offers recommendations to improve support for autistic people who have epilepsy and provides suggestions for future research priorities.
Largest reach
of network to date
3 chapters
in books
During 2021 Dr Tim Tierney, was awarded the Epilepsy Research UK and Young Epilepsy Fellowship. This jointly funded fellowship award provides a grant of £300,000 which will be used to conduct research into the development of a radiofrequency magnetometer sensor, which can be worn in a normal hospital ward or residential setting. It is hoped that in the future this advancement would eliminate the need
for more invasive assessments. Much of Tim’s research on this project will be undertaken in the new diagnostic suite at Young Epilepsy.
99 partnership
published
primary research papers
Paediatric Epilepsy Research Report 2021
Largest Research Retreat to date
with over 150 participants
coming together to share knowledge
and discuss projects
23
Highest impacting
research papers


Paediatric Epilepsy Research Report 2021
Meeting our research goals
Our research originates from the identification of clinical problems and feedback from patients. Ideas are then developed into project plans for which funding is sought and an expert team assembled. The end result is to publish results as original research which has stood up to the review and critique of independent experts – a process known as peer review. This ensures robust evidence on which we can implement changes and/or conduct further research.
Laboratory based & epidemiological research
GOALS 1, 2 & 6
Experimental medicine and techniques
GOAL 3 & 6
Clinical trials and Intervention
GOALS 3,4,5 & 6
Publication of evidence and clinical education
GOAL 6
Changing clinical practice and patient experience
60 50 40 30 20 10 0
50
46
Identifying clinical and patient issues for research
Translation of research findings into practice
The number of research projects within the partnership saw a very slight decrease from last year (Figure 1) which as expected reflects the impact of covid. We track the contribution of active projects to the three workstreams and six goals (Figure 2). We are historically strongest in addressing Workstream 1 and 2 – Understanding Childhood Epilepsies and Outstanding Treatments (Figure 3). Given our clinical origins this is not surprising, but we continue to encourage research under Workstream 3, Outstanding Support, through educational, psychosocial, and service-based research.
Figure 1: Number of active research projects per year 41
30
33
10 13 2010/11 2011/12
14 18 17
19
2015/16
Number of projects reported
24
Report Year
2012/13 2013/14
2014/15
2016/17 2017/18 2018/19
2019/20 2020/21


30 25 20 15 10 5 0
Figure 2: Number of active projects contributing to research goals Many projects contribute to more than one workstream and/or goal
2016/17
2017/18 2018/19
2019/20
2020/21
Paediatric Epilepsy Research Report 2021
Goal 1
Goal 2
Goal 3
Goal 4
Goal 5
Goal 6
Figure 3: The relative work under each workstream year by year
(Number of projects contributing to each workstream annually, weighted by number of goals per workstream)
2016/17
2017/18 2018/19 2019/20
2020/21
Understanding Childhood Epilepsies
30 25 20 15 10 5 0
Outstanding Support
Outstanding Treatment
25
Number of projects contributuing to goal


Paediatric Epilepsy Research Report 2021
The strength of the evidence we publish
Over the past 10 years, our research programme has grown from having just four Principal Investigators (the leaders of research units and laboratories, often Professors), to having 32 Principal Investigators supervising 20 PhD students and working alongside an additional 43 international collaborating researchers (Figure 4). This growth is reflected in the number of research projects and publications produced across the unit each year (Figure 5). 2021 has seen a sharp rise in the number of publications which is likely due to an increase
in time available as a result of people working from home during Covid. Whilst there were three chapters in books during the period, there were no reviews of communications of expert opinion (Figure 5).
2009/10 2010/11 2011/12
2012/13 2013/14
2014/15 2015/16
Report Year
2016/17 2017/18
2018/19 2019/20
2020/21
Figure 4: Annual growth of the Research Unit Network
50 40 30 20 10 0
Number of PhD students
Number of Principal Investigators
Number of Active Collaborators
Figure 5: Number of research publications produced per year
120 100 80 60 40 20 0
Peer reviewed publications of original research
Reviews or communications of expert opinion
Books or chapters in books
Number of publications Number of people
2009/10 2010/11 2011/12
2012/13 2013/14
2014/15 2015/16 2016/17
Report Year
2017/18
2018/19 2019/20
2020/21
26
We track the progress and influence of these research publications over time using two metrics –
citations and an altmetric attention score (Figure 6). A citation is counted when an individual research
paper is referred to in a later research publication as a source of evidence. The altmetric attention score
that we use is produced by an independent bibliographic data organisation, Dimensions.ai, and is
calculated based on the public attention that an individual publication has received across news articles,
social platforms, and policy documents.


Figure 6: Impact of research publications (correct at November 2021)
Paediatric Epilepsy Research Report 2021
150 125 100 75 50 25 0
Mean Citations per Published Paper
Mean Altmetric Attention Score per Published Paper
2009 2010 2011 2012
2013/14
2014/15 2015/16
Report Year
2016/17 2018 2019 2020 2021
These data reveal to us that although last year we produced more publications (160), this year’s 95 publications have made more immediate impact. Despite having less time to be cited by subsequent work, this year’s papers have a mean of 11 citations each, versus a mean of 8 citations per paper published last year (Figure 6). Usually, the longer a publication is available, the more citations you can expect it to accrue, however older papers eventually become less relevant and are cited less.
The difference in mean altmetric attention score is profound, with a score of 11.45 for last year and 79.26 for this year (Figure 6). To put this in context, last year, three papers had an altmetric attention score of >100, meaning that they were in the top 5% of all the research papers tracked by Dimensions.ai. This year there are nine, with three scoring over 1000. This difference is likely due to the increasing access to research and increasing ability to track this access, but in these extreme cases, it is due to their being linked to current global affairs, such as COVID-19 and Genomics.
Topics of the 2020/21 high impact papers cover:
The risks of prescribing certain antibiotics during pregnancy and their relationship to birth defects including neurological problems
The application of whole genome sequencing to better understand and treat rare diseases in the NHS The psychological, social, and neuroscientific effects of COVID-19, and setting out the immediate priorities and longer-term strategies for mental health science research
Agreed advice from international clinical experts for the continued clinical management of epilepsy during the COVID-19 pandemic
The efficacy of a new anti-seizure medicine for Dravet Syndrome
Evidence which challenges the common understanding of mitochondrial DNA inheritance in humans. A critical step in the progression of the treatment of mitochondrial diseases (2 papers) How loneliness and disease containment measures impact on the mental health of children
and adolescents
Categorisation of the major functional groupings of epilepsy-associated genes in light of currently available genetic testing approaches, and the known genetic landscape of the epilepsies.
27
Number of publications


Paediatric Epilepsy Research Report 2021
Research Impact Stats 2011-2021
Figure 7: Mean Citation Per Published Paper
120 100 80 60 40 20 0
Nov 20
2015/16
Nov 21
2016/17 2018
2011
2012 2013/14
2014/15
2019 2020 2021
Figure 8: Impact of Published papers at Nov 2021 Limitations: Older papers have had longer to accumulate citations
Report Year
150 125 100 75 50 25 0
Mean Citations per Published Paper
Number of publications Number of publications
28
2009
2010 2011 2012
2013/14 2014/15 2015/16
Report Year
2016/17 2018
2019 2020 2021


How do we ensure research is developed to reflect the real needs of clinicians and patients?
Our research collaboration with GOSH and ICH ensures that the focus of our research is developed from clinical needs. The E-CURe (Epilepsy Carers Uniting with Researchers) network strengthens the voice of children and young people with epilepsy in our research. This was originally established by Young Epilepsy and doctors from ICH, continues
to provide an essential vehicle to achieve this. The group continues to grow, and we now have over 140 members but would welcome more. Please see page 44 for more details about to get involved. This year the group has been involved in many projects including the following:
Held a launch event to showcase projects seeking support from patients and the public on research design and importance of research themes
Co-developed the research design of the biggest trial of cannabis as a medicinal product
Consulted and improved the design of the Young Epilepsy Coronavirus and Epilepsy Experience Survey
Recruited a parent representative for the KIWE Trial Steering Group
Recruited a parent clinician board member for the British Paediatric Neurology Association (BPNA) and Advanced Life Support Group (ASLG) Status Epilepticus Working Group to update the management guidelines for convulsive status epilepticus Presented the parent view of participating in research at the Young Epilepsy Annual Paediatric Epilepsy Research Retreat 2020 Engaged in the award process of the Young Epilepsy and Epilepsy Research UK Joint Fellowship.
The practice of involving patients in research is called Patient and Public Involvement (PPI) and it is crucial in the development of practical, relevant research.
Taking part in research projects means I get
to meet other young people with epilepsy as well as a range of professionals. Discussing and sharing your epilepsy experience increases confidence and it is empowering to know
that your voice is being heard and helping to influence change. Seeing those changes in policy and practice, and knowing you have made a difference to other people, is rewarding and makes you more positive about your condition.
I would encourage any young person with epilepsy to take part in research projects.
Young person with epilepsy
I just want to say how valuable it is to be part of this group, when as a parent, we often feel very helpless in our child’s medical/healthcare (not the fault of anyone). Through this group, it provides
a unique opportunity to feel involved in planning and reviewing interventions that may actually benefit our child or others. Additionally to learn about the latest research, which gives much needed hope that professionals are determined to continue to find holistic therapies and interventions for paediatric Epilepsy.
Parent of a child with epilepsy
Importance of PPI
Paediatric Epilepsy Research Report 2021
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“
“


Paediatric Epilepsy Research Report 2021
How does our research impact clinical practice and ultimately benefit children and young people with epilepsy?
This is the toughest question to answer. Currently we record the translation of research to benefit children and young people with epilepsy through our completed projects featured on page 19. Projects under workstream one and two filter immediately into further research and/or updated guidance to support clinical practice. Projects
under workstream 3 are further translated by Young Epilepsy into programs such as our Guide for Schools www.youngepilepsy.org.uk/guide- for-schools and information is also provided for young people with epilepsy via Young Epilepsy’s The Channel at www.thechannel.org.uk.
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Retreat 2021
Young Epilepsy Paediatric Epilepsy Research Retreat 2021
Paediatric Epilepsy Research Report 2021
The Young Epilepsy Research Retreat,
hosted by The Prince of Wales’s Chair of Childhood Epilepsy, is an annual gathering of researchers and collaborators across our research unit. This meeting gives researchers the opportunity to share ongoing and/or completed projects, as well as discuss and explore future directions of research. The uniqueness of the event enables researchers, to engage with a rich and diverse network
of colleagues from a wide range of backgrounds and thereby benefit from each other’s experience and expertise.
2021 marked our 11th Retreat and Professor Cross opened and presided over the event for the two days. Alongside Professor Cross we were delighted to welcome two eminent Professors as our Moderators.
On day one we were supported by Professor Finbar O’Callaghan, who is Professor of Paediatric Neuroscience at the Institute of Child Health, University College London.
Then, on day two, the baton was taken up by Professor Sameer Zuberi, who is a Consultant Paediatric Neurologist at the Royal Hospital for Children and Honorary Professor in the University of Glasgow.
The two days were packed with back-to-back presentations from across the wide portfolio of our research projects. As usual, the discussions at the end of each presentation gave investigators the opportunity to receive comments and feedback from fellow researchers and principal investigators representing a vast array of different fields and help in informing next steps.
Whilst our 2021 retreat was certainly not the format we originally envisaged, nonetheless the feedback received from participants was that they found this unique environment and network just as informative and motivating event as ever.
Professor Finbar O’Callaghan
Professor Sameer Zuberi 31


Paediatric Epilepsy Research Report 2021
Research Funding
Central to the research programme is the ability to apply for and manage research grants and charitable donations.
Our collaborative funding strategy has enabled us to build the world’s largest paediatric epilepsy research unit and network of multidisciplinary practitioners.
Between July 2020 and July 2021, research across the unit has secured approximately £25million in new research grants.
Alongside academic grants raised by the researchers and their academic institutions,
we rely on the additional multidisciplinary fundraising by Young Epilepsy, which allow us to redirect funds where the need is greatest within a project. This flexibility is vital and provides stability during challenges such as delays.
The future of this programme rests on the ability to maintain and build the current infrastructure which allows us to maintain a base of operations to lead, coordinate and provide governance.
We remain ever grateful for the generosity and dedication of the organisations and individuals who support our work.
Thank you!
Action Medical Research Autistica
Brain Tumour Charity
Cancer Research UK
Child Health Research Trust Children with Cancer UK D’Oyly Carte Charitable Trust Epilepsy Research UK Ethypharm
European Association of Neurosurgical Societies European Commission
Freya Foundation
The George E Neville Foundation
Google Cloud Platform Research Credit Award GOSH NIHR BRC
Great Ormond Street Children’s Charity
GW Pharmaceuticals
The Hospital Saturday Fund Innovate UK
James Lewis Foundation
32
Michael Cornish Charitable Trust
National Institute of Health Research (NIHR)
Nevilles PLC
NIHR GOSH Biomedical Research Centre
NIHR GOSH BRC PPIE Small Grants
Novartis
Nutricia
The Oakdale Trust
Oakgrove Foundation
Rosetree’s Trust
Sir Henry Wellcome Fellowship
UCB BioPharma
UCL Child Health Research CIO Strategic Initiatives Pump-Priming Fund
Veriton Pharma
Vitaflo
Waterloo Foundation
Wellcome Research Enrichment - Public Engagement
Wolfson Foundation Wyfold Charity Trust Young Epilepsy
Medical Research Council Clinician Scientist Fellowship


Researchers
The research team contribute to a wide spectrum of activities from basic science to patient care. The team consists of a multidisciplinary range of experts working across Young Epilepsy, UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children.
Principal Investigators
Professor Helen Cross OBE The Prince of Wales’s Chair of Childhood Epilepsy and Head of UCL GOS - ICH Developmental Neurosciences Programme
Young Epilepsy; UCL GOS - Institute of Child Health
and Great Ormond Street Hospital for Children
Additional Roles:
Elected Treasurer (2017-2021) - International League Against Epilepsy (ILAE)
Elected President (2021-2025) International League Against Epilepsy (ILAE)
Chair Research Council - European Reference Network for Rare and Complex Epilepsies (EpiCARE)’
Elected to Board - International Child Neurology Association Member - MHRA Paediatric Medicines Expert Advisory Group President - Epilepsy Research UK
Clinical Advisor - Children’s Epilepsy Surgery Service (CESS) Clinical Advisor - Epilepsy Action
Clinical Advisor to Revision of NICE Guidelines for Childhood Epilepsy - National Institute for Health and Care Excellence 2018-2022
Chair of Medical Board - Hope for Hypothalamic Hamartoma Chair of Medical Board - Matthew’s Friends
Chair of the Medical Board - Dravet UK)
Professor Torsten Baldeweg Professor of Developmental Cognitive Neuroscience, Deputy Head of UCL GOS - ICH Developmental Neurosciences Programme
UCL GOS - Institute of Child Health
Additional Roles:
External Expert to the French Higher Research Council - University of Amien
Chairman of Exam Board, MSc Paediatric Neuropsychology - University College London
Module organiser and lecturer, MSc Paediatric Neuropsychology - University College London
Editor (Until December 2019) - Journal of Developmental Cognitive Neuroscience
Professor Gareth Barnes Head of Magnetoencephalography
Wellcome Centre for Neuroimaging
Professor Chris Clark Professor of Imaging and Biophysics, Head of UCL GOS – ICH Developmental Imaging and Biophysics Section
UCL GOS - Institute of Child Health
Professor Michelle De Haan Professor in Infant and Child Development
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Paediatric Epilepsy Research Report 2021
Additional Roles:
Affiliated Scientist - British Autism Study of Infant Siblings Network
Course Speaker, MSc in Cognitive Neuroscience, Translational Research Module - University College London
Deputy Director, MSc in Clinical & Applied Paediatric Neuropsychology - UCL GOS - ICH
Director, MSc in Infancy and Early Childhood Development - UCL GOS - ICH
Membership of Steering Committees - Centre for Developmental Cognitive Neuroscience UCL
Professor Isobel Heyman Consultant Child and Adolescent Psychiatrist
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Professor Tom Jacques Professor of Paediatric Neuropathology
UCL GOS - Institute of Child Health and Great
Ormond Street Hospital for Children
Additional Roles:
Editor in Chief - Journal of Neuropathology and Applied Neurobiology
Lead - Paediatric Tumour Genomics England Clinical Interpretation Partnership (GeCIP)
Pathology representative on the Central Nervous System subgroup - National Cancer Research Institute (NCRI) Children’s Cancer and Leukaemia Clinical Studies Group
Professor Manju Kurian NIHR Research Professor and Professor of Neurogenetics
UCL GOS - Institute of Child Health
Additional Roles:
Chair - BPNA Research Committee
Member of the Scientific Advisory Committee - Epilepsy Research UK
Professor Finbar O’Callaghan Professor of Paediatric Neuroscience, Head of UCL GOS - ICH Clinical Neurosciences Section
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Additional Roles:
President - British Paediatric Neurology Association (BPNA)
Secretary and Board Member- European Paediatric Neurology Society (EPNS)
33


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Paediatric Epilepsy Research Report 2021
Professor Shamima Rahman Professor of Paediatric Metabolic Medicine
UCL GOS - Institute of Child Health and Great
Ormond Street Hospital for Children
Additional Roles:
Adviser to Statutory Approvals Committee - Human Fertilisation and Embryology Authority
Contributor, MSc courses - UCL GOS - ICH and UCL Institute of Neurology and Genomics England
Coordinator of Mitochondrial Subnetwork - Metabolic European Reference Network (MetabERN)
Editor- Journal of Inherited Metabolic Disease
Lead of Mitochondrial Subdomain - Genomics England Clinical Interpretation Partnership (GeCIP)
Member of the Clinical and Scientific Review Panel - Mito Foundation, Australia
Member of the Evaluation Committee - 2020 European Joint Programme on Rare Diseases
Member of the External Advisory Board - North American Mitochondrial Disease Consortium
Member of the Medical Advisory Board - Freya Foundation
Member of the Medical Advisory Board - Lily Foundation
Member of the Scientific Advisory Board – Khondrion
Member of the Scientific Advisory Committee - Canadian Mitochondrial Network
Member of the Scientific Council of the AFM-Telethon - French Muscular Dystrophy Association
Member of the Steering Committee - Collaborative International Leigh Syndrome Task Force
Member of the Steering Group - Rare Mitochondrial Disorders Priority Setting Partnership, James Lind Alliance and Genetic Alliance UK
Senior Editor - Annals of Human Genetics
Training Advisor for Inherited Metabolic Medicine - Royal College of Paediatrics and Child Health
Professor Rosamund Shafran Chair in Translational Psychology
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Professor Rod Scott Professor of Paediatric Neuroscience
UCL GOS - Institute of Child Health; Great Ormond
Street Hospital for Children and University of
Vermont, USA
Additional Roles:
Associate Editor - BMC Neurology
Member of the Basic Science Committee - American Epilepsy Society
Member of the Editorial Board - Epilepsia, Journal of the ILAE
Member of the Workshop on Neurobiology of Epilepsy (WONOEP) - ILAE Neurobiology Commission Conference
Reviewer - National Institute of Health Research (NIHR)
Professor Faraneh Vargha-Khadem Professor of Developmental Cognitive Neuroscience, Head of UCL GOS - ICH Cognitive neurosciences Section
UCL GOS - Institute of Child Health and Great
Ormond Street Hospital for Children
Additional Roles:
Member of the Scientific Advisory Board - Max Planck Society
Dr Patricia Atkinson Consultant Community Paediatrician
Sussex Community NHS Foundation Trust
Dr Sarah Aylett Consultant Paediatric Neurologist
Great Ormond Street Hospital for Children
Additional Roles:
Caldicott Guardian Postgraduate Teaching - ICH-UCL
Dr Stewart Boyd Consultant Clinical Neurophysiologist
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Dr David Carmichael Honorary Reader in Neuroimaging and Biophysics, Reader in Magnetic Resonance Physics
UCL GOS - Institute of Child Health and Wellcome /
EPSRC Centre for Medical Engineering, Kings College
London
Additional Roles:
Member of the MRI expert task force - E-PILEPSY E-PROCESSING
Dr Maria Clark Consultant Paediatric Neurologist UCL GOS - Institute of Child Health and Great
Ormond Street Hospital for Children
Dr Felice D’Arco Consultant Paediatric Neuroradiologist
Great Ormond Street Hospital for Children
Additional Roles:
Chair - GOSH MRI Safety Group
Honorary Senior Lecturer - UCL GOS - ICH and UCL Institute of Neurology
Lecturer - European Course of Paediatric Neuroradiology
Member - European Network for Brain Malformations
Member of the Editorial Board - Journal of the European Society of Neuroradiology
Dr Krishna Das Consultant Paediatric Neurologist Young Epilepsy and Great Ormond Street Hospital
for Children
Dr Christin Eltze Consultant Paediatric Neurologist UCL GOS - Institute of Child Health and Great
Ormond Street Hospital for Children
Dr Marios Kaliakatsos Paediatric Neurologist Great Ormond Street Hospital for Children
Dr Amy McTague MRC Clinician Scientist Fellow and Honorary Consultant Paediatric Neurologist
UCL GOS - Institute of Child Health
Additional Roles:
Member of work package 2, Laboratory Diagnostics - EpiCARE Scientific Adviser - Apollo London translational medicine network Scientific Adviser - KCNT1 Epilepsy Foundation
Professor Philippa Mills Associate Professor of Inherited Paediatric Metabolic Disease
UCL GOS - Institute of Child Health
Additional Roles:
Course Contributor - UCL GOS - ICH
Treasurer - Society of the Study of Inborn Errors of Metabolism
Dr Friederike Moeller Consultant Clinical Neurophysiologist
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children


Dr Ronit Pressler Consultant in Clinical Neurophysiology and Clinical Lead of GOSH Telemetry Unit, Honorary Associate Professor in Clinical Neuroscience
UCL GOS - Institute of Child Health and Great Ormond
Street Hospital for Children
Additional Roles:
Affiliated Member- Paediatric Neurosciences Clinical Reference Group (CRG), NHS England
Chair of the Neonatal Guideline Task Force - Commission on Paediatrics of the ILAE
Co-chair of INC Seizures Workgroup - International Neonatal Consortium by Critical Path Institute, enabled by FDA/EMA
Council Member - British Society for Clinical Neurophysiology
Course Director, EEG in the First Year of Life teaching course - ILAE
International Secretary - British Society for Clinical Neurophysiology (BSCN)
Lead- Neonatal seizure working group of GAIA, Brighton Collaboration
Lecturer in Neonatal Seizures - ILAE
Member of the Editorial Board - European Journal of Paediatric Neurology
Member of the Medical Therapy in Children Task Force - ILAE
Web based teaching: e-brain: Epileptic Seizures and Syndromes in Neonates and Infants - ILAE
Dr Colin Reilly Educational Psychologist
Young Epilepsy and UCL GOS - Institute of Child Health
Additional Roles:
Annual workshops for trainee educational psychologists - University College London
Co-Chair Paediatric Psychiatric Issues Committee - ILAE
Co-Chair Paediatric Psychiatric Issues Committee – ILAE Member of the Editorial Board - Epilpesy & Behavior
Dr Robert Robinson Consultant Paediatric Neurologist
UCL GOS - Institute of Child Health and Great Ormond Street Hospital for Children
Dr Richard Rosch Sir Henry Wellcome Postdoctoral Fellow
King’s College London, University of Pennsylvania
Additional Roles:
Clinical Fellow - Great Ormond Street Hospital for Children
Dr Richard Scott Consultant in Clinical Genetics
UCL GOS - Institute of Child Health and Great Ormond
Street Hospital for Children
Mr Martin Tisdall Consultant Paediatric Neurosurgeon and Honorary Associate Professor
UCL GOS - Institute of Child Health; Great Ormond
Street Hospital for Children and National Hospital for
Neurology and Neurosurgery
Additional Roles:
Honorary Senior Lecturer - UCL GOS - ICH and UCL Institute of Neurology
Dr Sophia Varadkar Consultant Paediatric Neurologist
UCL GOS - Institute of Child Health and Great Ormond
Street Hospital for Children
Additional Roles:
Chair - North Thames Neurosciences Network for the Neurosurgical Child
Chair of the Steering Committee - BPNA Paediatric Epilepsy Training Programme
Co-Chair - UK Paediatric Vagus Nerve Stimulation (VNS) expert group Council Member - ILAE British Chapter
Medical Advisor - Children’s Trust, Tadworth
Medical Advisor and Trustee - Ring 20 Research and Support UK Member - RCPCH Epilepsy Programme Board
Research Staff
Sophie Adler-Wagstyl Research Associate Konrad Adler-Wagstyl Research Associate Amit Bali Clinical Leadership Fellow
Katy Barwick Genetics Associate - EpiPEG Anne Brown Research Administrator Sarah Buck Research Associate
Emma Dalrymple PPI Lead – MICE
Sally Halsall Trial Manager - KIWE
Joan Idowu Assistant Research Psychologist
Emma Johnson Assistant Research Psychologist - WINS
Laura Lyons Trial Manager - KIWE
Elaina Maldonado Research Associate
Amy Muggeridge Research Manager, Young Epilepsy
Liz Neal Honorary Research Dietitian
Nicola Openshaw-Lawrence EpiCARE ERN Operational Helpdesk Coordinator and Data Manager
Manuela Pisch Research Associate
Mirja Steinbrenner Research Associate Natasha Schoeler Senior Research Dietitian Tom Stone Research Associate
Paediatric Epilepsy Research Report 2021
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Paediatric Epilepsy Research Report 2021
PhD Students
Fatimah Almousawi Pathways and mechanisms affected in individuals with vitamin B6-responsive epilepsy
Filipa Bastos Organisation of memory function in children after temporal lobe surgery for intractable epilepsy
Victoria Bryant Sudden Unexpected Death in Childhood; characteristics, autopsy findings and investigation
Dominic Burrows Brain-wide abnormal dynamics during epileptic seizures at single cell resolution
Jack O’Brien-Cairney From Whole Brain to Synapse: a Computational Perspective on Brain Dysfuncton in Paediatric Autoimmune Encephalopathies
Aswin Chari Novel network evaluation of intracranial EEG to identify the epileptogenic zone
Rosie Coleman Functional and structural plasticity after epilepsy surgery
Maria Eriksson Cognitive outcomes after neurosurgical treatment for focal epilepsy: developing a neuroanatomical predictive model for clinical decision making
Amy Fairchild Characterisation of high-risk paediatric brain tumours and their aberrant gene networks
Nandaki Keshavan Gene Therapy for Deoxyguanosine Kinase Deficiency
Mei-Ju Lai Investigating cellular identity in childhood epilepsy
Jane Kung Epilepsy in infancy – relating phenotype to genotype
Stephanie Mellor Movement Correction and Clinical Implementation of Wearable Magnetoencephalography (MEG)
Rory Piper Role of the piriform cortex in the epileptogenic connectome
Mathilde Ripart Automated detection of pathology from MRI in children with drug-resistant focal epilepsy
Maneet Saini Effects of neonatal hypoxia/ischaemia on language and phonological abilities in children with complex congenital heart disease
Izabella Smolicz The biology of paediatric central nervous system tumours at post-mortem
Ulrich Stoof Multiscale modelling of epileptic networks from SEEG recordings
Aitkaterini Vezyroglou Deep phenotyping of alternating hemiplegia in childhood
Ella Whittle Utilizing whole genome sequencing to revolutionize diagnosis of neurological disorders
Active Collaborators
Professor Alexis Arzimanoglou
Director of Epilepsy, Sleep and Pediatric Neurophysiology
University Hospitals of Lyon, France
Coordinator of the Epilepsy Program
SJD Barcelona Children’s Hospital and Department
Coordinator
European Reference Network (ERN) for complex epilepsies, EpiCARE
Professor Ingmar Blümcke
Professor of Neuropathology
Universitätsklinikum Erlangen, Germany
Professor Richard Bowtell
Head of Sir Peter Mansfield Imaging Centre and Professor of Physics
University of Nottingham
Professor Kees Braun
Professor of Neurology and Neurosurgery
University Medical Center Utrecht, Netherlands
Professor Matthew Brookes
Professor of Physics
University of Nottingham
Professor Lyn Chitty
Professor of Genetics and Foetal Medicine
UCL GOS ICH
Professor Nick Freemantle
Professor of Clinical Epidemiology and Biostatistics
PRIMENT Clinical Trials Unit, UCL GOS – Institute of Child Health
Professor Simon Heales
Professor of Clinical Chemistry
UCL GOS - Institute of Child Health and Great Ormond Street Hospital
Professor Gregory Holmes
Professor of Neurology and Paediatrics
University of Vermont, USA
Professor Matthias Koepp
Professor of Neurology
UCL - Institute of Neurology
Professor Irwin Nazareth
Professor of Primary Care
PRIMENT Clinical Trials Unit, UCL GOS - Institute of Child Health
Professor Charles Newton
Cheryl & Reece Scott Professor of Psychiatry
University of Oxford
Professor Annapurna Poduri
Professor of Neurology
Boston Children’s Hospital and Harvard Medical School, USA


Professor Ingrid Scheffer AO
Paediatric Neurologist and Physician Scientist
University of Melbourne & Florey Institute of Neuroscience and Mental Health
Professor Neil Sebire
Professor of Paediatric and Developmental Pathology UCL GOS ICH
Professor Sanjay Sisodiya
Professor of Neurology
UCL - Institute of Neurology
Professor Sudhin Thayyil
Professor of Perinatal Neuroscience and Head of the Weston Group for Academic Neonatology and Director of the Centre for Perinatal Neuroscience
Imperial College London
Professor Matthew Walker
Professor of Neurology
UCL - Institute of Neurology
Professor Robin Williams
Professor of Molecular Cell Biology
Royal Holloway Hospital
Dr Shakti Agrawal
Consultant Paediatric Neurologist
Birmingham Children’s Hospital
Dr Helen Basu
Consultant Paediatric Neurologist
Lancashire Teaching Hospitals NHS Foundation Trust
Dr Bigna Bölsterli
Paediatric Neurologist
University Children’s Hospital Zurich, Switzerland
Dr Vann Chau
Assistant Professor of Neonatal Neurology
The Hospital for Sick Children (SickKids) Toronto Canada
Dr Richard Chin
Clinical Senior Lecturer
University of Edinburgh
Dr Gregory Costain
Assistant Professor of Paediatric Neuropsychiatric Genetics
The Hospital for Sick Children (SickKids) Toronto Canada
Dr Archana Desurkar
Consultant Paediatric Neurologist
Sheffield Children’s NHS Foundation Trust
Dr Anita Devlin
Trustee
Young Epilepsy
Consultant Paediatric Neurologist
Newcastle upon Tyne Hospitals NHS Foundation Trust
Dr Penny Fallon
Consultant Neurologist
St Georges Hospital
Dr Dougal Hargreaves
Health Foundation Improvement Science Fellow and Honorary Consultant Paediatrician
University College Hospital
Dr Katherine Howell
Clinician-Scientist Fellow and the Epilepsy Team Leader Murdoch Children’s Research Institute
Royal Children’s Hospital and Florey Institute of Neuroscience and Mental Health, Melbourne Australia
Dr Elaine Hughes
Consultant Paediatric Neurologist
Evelina London Children’s Hospital
Dr Judith Kalser
Paediatric Neurologist
Lausanne University Hospital, Switzerland
Dr Rachel Kneen
Consultant Paediatric Neurologist
Royal Liverpool University Hospital
Dr Andrew Mallick
Consultant Paediatric
Neurologist Bristol Children’s Hospital
Dr Louise Marston
Trial Statistician PRIMENT Clinical Trials Unit,
UCL GOS - Institute of Child Health
Dr Helen McCullagh
Consultant Paediatric Neurologist
Leeds Teaching Hospital
Dr Ailsa McLellan
Consultant Paediatric Neurologist
Royal Hospital for Sick Children, Edinburgh
Dr Alasdair Parker
Consultant Paediatric Neurologist
Cambridge University Hospital
Dr Natalie Pearson
Senior Research Associate in Physical Activity and Public Health
Loughborough University
Dr Rajib Samanta
Consultant Paediatric Neurologist
Leicester Royal Infirmary
Dr Lauren Sherar
Reader in Physical Activity and Public Health
Loughborough University
Dr Jeen Tang
Consultant Paediatric Neurologist
Royal Manchester Children’s Hospital
Dr Ruth Williams
Consultant Paediatric Neurologist
Evelina London Children’s Hospital
37
Paediatric Epilepsy Research Report 2021


Paediatric Epilepsy Research Report 2021
Research Publications
38
1. Absalom NL, Liao VWY, Kothur K, Indurthi DC, Bennetts B, Troedson C, Mohammad SS, Gupta S, McGregor IS, Bowen MT, Lederer D, Mary S, De Waele L, Jansen K, Gill D, Kurian MA, McTague A, Møller RS, Ahring PK, Dale RC, Chebib M. Gain-of- function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Commun. 2020 Oct 1;2(2):fcaa162. doi: 10.1093/braincomms/fcaa162. PMID: 33585817; PMCID: PMC7869430.
2. Apps JR, Stache C, Gonzalez-Meljem JM, Gutteridge A, Chalker J, Jacques TS, Forshew T, Hölsken A, Martinez-Barbera JP. CTNNB1 mutations are clonal in adamantinomatous craniopharyngioma. Neuropathol Appl Neurobiol. 2020 Aug;46(5):510- 514. doi: 10.1111/nan.12613. Epub 2020 Apr 2. PMID: 32125720; PMCID: PMC7610141.
3. Asadi-Pooya AA, Cross JH. Is wearing a face mask safe for people with epilepsy? Acta Neurol Scand. 2020 Oct;142(4):314-316. doi: 10.1111/ane.13316. Epub 2020 Jul 26. PMID: 32654134; PMCID: PMC7405123.
4. Baier G, Zhang L, Wang Q, Moeller F. Extracting the transition network of epileptic seizure onset. Chaos. 2021 Feb;31(2):023143. doi: 10.1063/5.0026074. PMID: 33653074.
5. Balestrini S, Chiarello D, Gogou M, Silvennoinen K, Puvirajasinghe C, Jones WD, Reif P, Klein KM, Rosenow F, Weber YG, Lerche H, Schubert-Bast S, Borggraefe I, Coppola A, Troisi S, Møller RS, Riva A, Striano P, Zara F, Hemingway C, Marini C, Rosati A, Mei D, Montomoli M, Guerrini R, Cross JH, Sisodiya SM. Real- life survey of pitfalls and successes of precision medicine in genetic epilepsies. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1044-1052. doi: 10.1136/jnnp-2020-325932. Epub 2021 Apr 26. PMID: 33903184.
6. Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis
E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. PMID: 32913013; PMCID: PMC7734736.
7. Batchelor R, Catanzano M, Kerry E, Bennett SD, Coughtrey AE, Liang H, Curry V, Heyman I, Shafran R. Debate: Lessons learned in lockdown - a one-day remotely delivered training on low-intensity psychological interventions for common mental health conditions. Child Adolesc Ment Health. 2020 Sep;25(3):175-177. doi: 10.1111/camh.12402. Epub 2020 Jul 16. PMID: 32674222.
8. Bättig L, Rosch R, Steindl K, Bürki SE, Ramantani G. Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epileptic Disord. 2021 Jun 1;23(3):506-510. doi: 10.1684/epd.2021.1287. PMID: 34080978.
9. Baumgartner T, Carreño M, Rocamora R, Bisulli F, Boni A, Brázdil M, Horak O, Craiu D, Pereira C, Guerrini R, San Antonio-Arce
V, Schulze-Bonhage A, Zuberi SM, Hallböök T, Kalviainen R, Lagae L, Nguyen S, Quintas S, Franco A, Cross JH, Walker M, Arzimanoglou A, Rheims S, Granata T, Canafoglia L, Johannessen Landmark C, Sen A, Rattihalli R, Nabbout R, Tartara E, Santos M, Rangel R, Krsek P, Marusic P, Specchio N, Braun KPJ, Smeyers P, Villanueva V, Kotulska K, Surges R, Tinuper P, Licchetta L, Michelucci R, Toulouse J, Panagiotakaki E, Ostrowsky- Coste K, Lesca G, de Curtis M, Elisak M, Domańska-Pakiea D, Sadowski K. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. Epilepsia Open. 2021 Jan 13;6(1):160-170. doi: 10.1002/epi4.12459. PMID: 33681659; PMCID: PMC7918306.
10. Beniczky S, Aurlien H, Franceschetti S, Martins da Silva A, Bisulli F, Bentes C, Canafoglia L, Ferri L, Krýsl D, Rita Peralta A, Rácz A, Cross JH, Arzimanoglou A. Interrater agreement of classification of photoparoxysmal electroencephalographic response. Epilepsia. 2020 Sep;61(9):e124-e128. doi: 10.1111/epi.16655. Epub 2020 Sep 19. PMID: 32949474.
11. Bennett S, Heyman I, Varadkar S, Coughtrey A, Walji F, Shafran R. Guided Self-help Teletherapy for Behavioural Difficulties in Children with Epilepsy. J Clin Psychol Med Settings. 2021 Sep;28(3):477-490. doi: 10.1007/s10880-021-09768-2. Epub 2021 Mar 19. PMID: 33740166.
12. Bennett SD, Au C, Byford S, Chorpita B, Coughtrey AE, Cross JH, Dalrymple E, Fonagy P, Ford T, Heyman I, Lewins A, Moss-Morris R, Reilly C, Xu L, Shafran R. Feasibility of telephone-delivered therapy for common mental health difficulties embedded
in pediatric epilepsy clinics. Epilepsy Behav. 2021 Mar;116:107743. doi: 10.1016/j.yebeh.2020.107743. Epub 2021 Feb 6. PMID: 33556861.
13. Bennett SD, Cross JH, Coughtrey AE, Heyman I, Ford T, Chorpita B, Moss- Morris R, Byford S, Dalrymple E, Reilly C, Stephenson T, Doré C, Varadkar S, Blackstone J, Chowdhury K, Ganguli P, Deane L; MICE Study Team, Shafran R. M.I.C.E-Mental Health Intervention for Children with Epilepsy: a randomised controlled, multi-centre clinical trial evaluating the clinical and cost- effectiveness of MATCH-ADTC in addition to usual care compared to usual care alone for children and young people with common mental health disorders and epilepsy-study protocol. Trials. 2021 Feb 11;22(1):132. doi: 10.1186/s13063-020-05003-9. PMID: 33573674; PMCID: PMC7876975.
14. Bennett SD, Heyman I, Coughtrey AE, Varadkar S, Stephenson T; Epilepsy and Mental Health Programme Development Grant Research Group, Shafran R. Telephone- guided self-help for mental health difficulties in neurological conditions: a randomised pilot trial. Arch Dis Child. 2021 Sep;106(9):862-867. doi: 10.1136/archdischild-2019-318577. Epub 2021 Jan 5. PMID: 33402326.
15. Biswas A, Malhotra M, Mankad K, Carney O, D’Arco F, Muthusamy K, Sudhakar SV. Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide. Transl Pediatr. 2021 Apr;10(4):1201-1230. doi: 10.21037/tp-20-335. PMID: 34012862; PMCID: PMC8107844.
16. Blümcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS, Rocha CS, Sim NS, Lee JH, Kim SH, Baulac S, Baldassari S, Adle-Biassette H, Walsh CA, Bizzotto S, Doan RN, Morillo KS, Aronica
E, Mühlebner A, Becker A, Cienfuegos J, Garbelli R, Giannini C, Honavar M, Jacques TS, Thom M, Mahadevan A, Miyata H, Niehusmann P, Sarnat HB, Söylemezoglu F, Najm I. Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. Epilepsia. 2021 Jun;62(6):1416-1428. doi: 10.1111/epi.16899. Epub 2021 May 5. PMID: 33949696.
Primary Research


17. Bonaiuto JJ, Afdideh F, Ferez M, Wagstyl K, Mattout J, Bonnefond M, Barnes GR, Bestmann S. Estimates of cortical column orientation improve MEG source inversion. Neuroimage. 2020 Aug 1;216:116862. doi: 10.1016/j.neuroimage.2020.116862. Epub 2020 Apr 16. PMID: 32305564; PMCID: PMC8417767.
18. Brierley J, Aylett S, MacNiven A, Dittborn M. Work of a paediatric bioethics centre during the COVID-19 pandemic first phase. Arch Dis Child. 2021 Sep;106(9):906-910. doi: 10.1136/archdischild-2020-320375. Epub 2021 Jan 12. PMID: 33436391; PMCID: PMC7804826.
19. Brigo F, Jones K, Eltze C, Matricardi S. Anti-seizure medications for Lennox- Gastaut syndrome. Cochrane Database Syst Rev. 2021 Apr 7;4(4):CD003277. doi: 10.1002/14651858.CD003277.pub4. PMID: 33825230; PMCID: PMC8095011.
20. Buck S, Bastos F, Baldeweg T, Vargha-Khadem F. The Pair Test: A computerised measure of learning and memory. Behav Res Methods. 2021 Apr;53(2):928-942. doi: 10.3758/s13428-020-01470-9. PMID: 32909110; PMCID: PMC8062426.
21. Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D’Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V; Telethon Undiagnosed Diseases Program, D’Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N. Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 Jun;42(6):745-761. doi: 10.1002/humu.24210. Epub 2021 May 11. PMID: 33942428; PMCID: PMC8251883.
22. Catanzano M, Bennett SD, Tibber MS, Coughtrey AE, Liang H, Heyman I, The Lucy Project Team, Shafran R. A Mental Health Drop-In Centre Offering Brief Transdiagnostic Psychological Assessment and Treatment in a Paediatric Hospital Setting: A One-Year Descriptive Study. Int J Environ Res Public Health. 2021 May 18;18(10):5369. doi: 10.3390/ijerph18105369. PMID: 34069973; PMCID: PMC8157880.
23. Chari A, Budhdeo S, Sparks R, Barone DG, Marcus HJ, Pereira EAC, Tisdall MM. Brain-Machine Interfaces: The Role of the Neurosurgeon. World Neurosurg. 2021 Feb;146:140-147. doi: 10.1016/j.wneu.2020.11.028. Epub 2020 Nov 13. PMID: 33197630.
24. Chhabda S, Sudhakar S, Mankad K, Jorgensen M, Carceller F, Jacques TS, Merve A, Aizpurua M, Chalker J, Garimberti E, D’Arco
F. Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis. Childs Nerv Syst. 2021 Jul;37(7):2375-2379. doi: 10.1007/s00381-020-04986-9. Epub 2020 Nov 27. PMID: 33247381.
25. Chinnery PF, Falk MJ, Mootha VK, Rahman S. Editorial: Mitochondrial medicine special issue. J Inherit Metab Dis. 2021 Mar;44(2):289-291. doi: 10.1002/jimd.12374. PMID: 33764554.
26. Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer
E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d’Hardemare V; Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian
M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. KMT2B- related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 33150406; PMCID: PMC7719027.
27. Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. PMID: 33200442.
28. Cross JH, Tomson T. Newer versus older antiseizure medications: further forward? Lancet. 2021 Apr 10;397(10282):1327-1329. doi: 10.1016/S0140-6736(21)00435-9. PMID: 33838747.
29. Cross JH. Epilepsy in 2020-a new dawn. Lancet Neurol. 2021 Jan;20(1):8-10. doi: 10.1016/S1474-4422(20)30438-5. PMID: 33340487.
30. Crow Y, Keshavan N, Barbet JP, Bercu G, Bondet V, Boussard C, Dedieu N, Duffy D, Hully M, Giardini A, Gitiaux C, Rice GI, Seabra L, Bader-Meunier B, Rahman S. Cardiac valve involvement in ADAR-related type I interferonopathy. J Med Genet. 2020 Jul;57(7):475-478. doi: 10.1136/jmedgenet-2019-106457. Epub 2019 Nov 26. PMID: 31772029.
31. Cserpan D, Boran E, Lo Biundo SP, Rosch R, Sarnthein J, Ramantani G. Scalp high-frequency oscillation rates are higher in younger children. Brain Commun. 2021 Mar 23;3(2):fcab052. doi: 10.1093/braincomms/fcab052. PMID: 33870193; PMCID: PMC8042248.
32. Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7. PMID: 33410528; PMCID: PMC7898319.
33. De Vito A, Mankad K, Pujar S, Chari A, Ippolito D, D’Arco F. Narrative review of epilepsy: getting the most out of your neuroimaging. Transl Pediatr. 2021 Apr;10(4):1078-1099. doi: 10.21037/tp-20-261. PMID: 34012857; PMCID: PMC8107872.
34. Driscoll N, Rosch RE, Murphy BB, Ashourvan A, Vishnubhotla R, Dickens OO, Johnson ATC, Davis KA, Litt B, Bassett DS, Takano H, Vitale F. Multimodal in vivo recording using transparent graphene microelectrodes illuminates spatiotemporal seizure dynamics at the microscale. Commun Biol. 2021 Jan 29;4(1):136. doi: 10.1038/s42003-021-01670-9. PMID: 33514839; PMCID: PMC7846732.
35. Durrant C, Wong HS, Cole TJ, Hutchon B, Collier L, Wright A, George C, De Haan M, Huertas Ceballos A. Developmental trajectories of infants born at less than 30 weeks’ gestation on the Bayley-III Scales. Arch Dis Child Fetal Neonatal Ed. 2020 Nov;105(6):623-627. doi: 10.1136/archdischild-2019-317810. Epub 2020 May 3. PMID: 32366516.
36. Elward RL, Rugg MD, Vargha-Khadem F. When the brain, but not the person, remembers: Cortical reinstatement is modulated by retrieval goal in developmental amnesia. Neuropsychologia. 2021 Apr 16;154:107788. doi: 10.1016/j. neuropsychologia.2021.107788. Epub 2021 Feb 12. PMID: 33587931; PMCID: PMC7967023.
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Paediatric Epilepsy Research Report 2021


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37. Emmerzaal TL, Nijkamp G, Veldic M, Rahman S, Andreazza AC, Morava E, Rodenburg RJ, Kozicz T. Effect of neuropsychiatric medications on mitochondrial function: For better or for worse. Neurosci Biobehav Rev. 2021 Aug;127:555-571. doi: 10.1016/j. neubiorev.2021.05.001. Epub 2021 May 15. PMID: 34000348.
38. Ferreira CR, Rahman S, Keller M, Zschocke J. (2021) An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 44(1):164-177. PMID: 33340416.
39. Ferrini A, Steel D, Barwick K, Kurian MA. (2021) An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease. Mov Disord. 36(5):1104-1114. doi: 10.1002/mds.28495.
40. Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. PMID: 34056100; PMCID: PMC8161540.
41. Gaillard WD, Jette N, Arnold ST, Arzimanoglou A, Braun KPJ, Cukiert A, Dick A, Harvey AS, Jacobs J, Rydenhag B, Udani V, Wilmshurst JM, Cross JH, Jayakar P; Task Force for Pediatric Epilepsy Surgery, Commission for Pediatrics, and the Surgical Commission of the International League Against Epilepsy. Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force. Epilepsia. 2020 Dec;61(12):2629-2642. doi: 10.1111/epi.16698. Epub 2020 Nov 14. PMID: 33190227.
42. Gogou M, Cross JH. Fenfluramine as antiseizure medication for epilepsy. Dev Med Child Neurol. 2021 Aug;63(8):899-907. doi: 10.1111/dmcn.14822. Epub 2021 Feb 9. PMID: 33565102.
43. Goldstein A, Rahman S. Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. J Inherit Metab Dis. 2021 Mar;44(2):343-357. doi: 10.1002/jimd.12320. Epub 2020 Oct 29. PMID: 33016339.
44. Hay E, Wilson LC, Hoskins B, Samuels M, Munot P, Rahman S. (2021) Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency. Eur J Hum Genet. 2021 Jul 20;. doi: 10.1038/s41431-021- 00932-8. [Epub ahead of print] PubMed PMID: 34285383.
45. Hernan AE, Mahoney JM, Curry W, Mawe S, Scott RC. Fine Spike Timing in Hippocampal-Prefrontal Ensembles Predicts Poor Encoding and Underlies Behavioral Performance in Healthy and Malformed Brains. Cereb Cortex. 2021 Jan 1;31(1):147-158. doi: 10.1093/cercor/bhaa216. PMID: 32860415; PMCID: PMC7727336.
46. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. The impact of gender, puberty, and pregnancy in patients with POLG disease. Ann Clin Transl Neurol. 2020 Oct;7(10):2019-2025. doi: 10.1002/acn3.51199. Epub 2020 Sep 18. PMID: 32949115; PMCID: PMC7545595.
47. Holmes H, Sawer F, Clark M. Autism spectrum disorders and epilepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associated with diagnosis. Epilepsy Behav. 2021 Apr;117:107813. doi: 10.1016/j.yebeh.2021.107813. Epub 2021 Feb 26. PMID: 33642176.
48. Joshi C, Nickels K, Demarest S, Eltze C, Cross JH, Wirrell E. Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome. Seizure. 2021 Feb;85:12-18. doi: 10.1016/j.seizure.2020.11.017. Epub 2020 Dec 28. PMID: 33383403.
49. Kasradze S, Lomidze G, Cross JH, Kvernadze D, Alkhidze M, Gagoshidze T. A six-year longitudinal study of neurocognitive problems in children with epilepsy. Brain Dev. 2021 Sep;43(8):833-842. doi: 10.1016/j.braindev.2021.03.007. Epub 2021 Apr 21. PMID: 33892994.
50. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Erratum in: Genet Med. 2021 Mar 8;: PMID: 33299146.
51. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w. Erratum for: Genet Med. 2021 Apr;23(4):653-660. PMID: 33686260.
52. Koh S, Wirrell E, Vezzani A, Nabbout R, Muscal E, Kaliakatsos M, Wickström R, Riviello JJ, Brunklaus A, Payne E, Valentin A, Wells E, Carpenter JL, Lee K, Lai YC, Eschbach K, Press CA, Gorman M, Stredny CM, Roche W, Mangum T. Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop. Epilepsia Open. 2021 Jan 13;6(1):62-72. doi: 10.1002/epi4.12447. PMID: 33681649; PMCID: PMC7918329.
53. Kuchenbuch M, D’Onofrio G, Wirrell E, Jiang Y, Dupont S, Grinspan ZM, Auvin S, Wilmshurst JM, Arzimanoglou A, Cross JH, Specchio N, Nabbout R. An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic. Epilepsy Behav. 2020 Nov;112:107376. doi: 10.1016/j.yebeh.2020.107376. Epub 2020 Aug 31. PMID: 32882627; PMCID: PMC7457939.
54. Lai YC, Muscal E, Wells E, Shukla N, Eschbach K, Hyeong Lee K, Kaliakatsos M, Desai N, Wickström R, Viri M, Freri E, Granata T, Nangia S, Dilena R, Brunklaus A, Wainwright MS, Gorman MP, Stredny CM, Asiri A, Hundallah K, Doja A, Payne E, Wirrell E, Koh S, Carpenter JL, Riviello J. Anakinra usage in febrile infection related epilepsy syndrome: an international cohort. Ann Clin Transl Neurol. 2020 Dec;7(12):2467-2474. doi: 10.1002/acn3.51229. Epub 2020 Dec 4. PMID: 33506622; PMCID: PMC7732241.
55. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet- Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith- Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. PMID: 33106617; PMCID: PMC7862067.
Paediatric Epilepsy Research Report 2021


56. Leon-Rojas J, Cornell I, Rojas-Garcia A, D’Arco F, Panovska-Griffiths J, Cross H, Bisdas S. The role of preoperative diffusion tensor imaging in predicting and improving functional outcome in pediatric patients undergoing epilepsy surgery: a systematic review. BJR Open. 2021 Jul 5;3(1):20200002. doi: 10.1259/bjro.20200002. PMID: 34381942; PMCID: PMC8320117.
57. Li YF, Scerif F, Picker SR, Stone TJ, Pickles JC, Moulding DA, Avery A, Virasami A, Fairchild AR, Tisdall M, Harkness W, Cross JH, Hargrave D, Guillemot F, Paine SM, Yasin SA, Jacques TS. Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis. Neuropathol Appl Neurobiol. 2021 Oct;47(6):781- 795. doi: 10.1111/nan.12715. Epub 2021 May 9. PMID: 33797808.
58. Li YF, Thom M, Jacques TS. Novel therapeutic targets in epilepsy: oxidative stress and iron metabolism. Neuropathol Appl Neurobiol. 2020 Oct;46(6):519-521. doi: 10.1111/nan.12615. PMID: 32155661.
59. Lorentzos MS, Heyman I, Baig BJ, Coughtrey AE, McWilliams A, Dossetor DR, Waugh MC, Evans RA, Hollywood J, Burns J, Menezes MP, Mohammad SS, Grattan-Smith P, Gorman KM, Crowe BHA, Goodman R, Kurian MA, Dale RC. Psychiatric comorbidity is common in dystonia and other movement disorders. Arch Dis Child. 2021 Jan;106(1):62-67. doi: 10.1136/ archdischild-2020-319541. Epub 2020 Jul 24. PMID: 32709686.
60. Lorentzos MS, Heyman I, Baig BJ, Coughtrey AE, McWilliams A, Dossetor DR, Waugh MC, Evans RA, Hollywood J, Burns J, Menezes MP, Mohammad SS, Grattan-Smith P, Gorman KM, Crowe BHA, Goodman R, Kurian MA, Dale RC. Psychiatric comorbidity is common in dystonia and other movement disorders. Arch Dis Child. 2021 Jan;106(1):62-67. doi: 10.1136/ archdischild-2020-319541. Epub 2020 Jul 24. PMID: 32709686.
61. Lorio S, Sedlacik J, So PW, Parkes HG, Gunny R, Löbel U, Li YF, Ogunbiyi O, Mistry T, Dixon E, Adler S, Cross JH, Baldeweg T, Jacques TS, Shmueli K, Carmichael DW. Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy. Neuroimage. 2021 Sep;238:118102. doi: 10.1016/j.neuroimage.2021.118102. Epub 2021 May 29. PMID: 34058334; PMCID: PMC8350142.
62. Maria Clark, Harriet Holmes, Adeline Ngoh, Varsha Siyani, Gemma Wilson, (2021) Overview of Landau–Kleffner syndrome: early treatment, tailored education and therapy improve outcome, Paediatrics and Child Health, Volume 31, Issue 5, 2021, Pages 207-219, ISSN 1751-7222.
63. McCormick C, Barry DN, Jafarian A, Barnes GR, Maguire EA. vmPFC Drives Hippocampal Processing during Autobiographical Memory Recall Regardless of Remoteness. Cereb Cortex. 2020 Oct 1;30(11):5972-5987. doi: 10.1093/cercor/bhaa172. PMID: 32572443; PMCID: PMC7899055.
64. Mehdi Khan Jaber Paktiawal , Rory J. Piper, Aswin Chari, and Martin M. Tisdall. Intracranial neuromodulation (deep brain stimulation and responsive neurostimulation) in children with drug-resistant epilepsy: a systematic review. Journal of Neurosurgery: Paediatrics. [In press]
65. Mesraoua B, Deleu D, Hassan AH, Gayane M, Lubna A, Ali MA, Tomson T, Khalil BA, Cross JH, Asadi-Pooya AA. Dramatic outcomes in epilepsy: depression, suicide, injuries, and mortality. Curr Med Res Opin. 2020 Sep;36(9):1473-1480. doi: 10.1080/03007995.2020.1776234. Epub 2020 Jul 15. PMID: 32476500.
66. Mewasingh LD, Chin RFM, Scott RC. Current understanding of febrile seizures and their long-term outcomes. Dev Med Child Neurol. 2020 Nov;62(11):1245-1249. doi: 10.1111/dmcn.14642. Epub 2020 Aug 3. PMID: 32748466.
67. Monk AM, Barnes GR, Maguire EA. The Effect of Object Type on Building Scene Imagery-an MEG Study. Front Hum Neurosci. 2020 Nov 10;14:592175. doi: 10.3389/fnhum.2020.592175. PMID: 33240069; PMCID: PMC7683518.
68. Monk AM, Dalton MA, Barnes GR, Maguire EA. The Role of Hippocampal- Ventromedial Prefrontal Cortex Neural Dynamics in Building Mental Representations. J Cogn Neurosci. 2021 Jan;33(1):89-103. doi: 10.1162/jocn_a_01634. Epub 2020 Sep 28. PMID: 32985945; PMCID: PMC7116437.
69. Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. PMID: 33912662; PMCID: PMC8075573.
70. Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D’Amato L, Beaure d’Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O’Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC. Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry. Front Neurol. 2021 Sep 8;12:697467. doi: 10.3389/fneur.2021.697467. PMID: 34566842; PMCID: PMC8455825.
71. Pavel AM, Rennie JM, de Vries LS, Blennow M, Foran A, Shah DK, Pressler RM, Kapellou O, Dempsey EM, Mathieson SR, Pavlidis E, van Huffelen AC, Livingstone V, Toet MC, Weeke LC, Finder M, Mitra S, Murray DM, Marnane WP, Boylan GB. A machine- learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial. Lancet Child Adolesc Health. 2020 Oct;4(10):740-749. doi: 10.1016/S2352-4642(20)30239-X. Epub 2020 Aug 27. PMID: 32861271; PMCID: PMC7492960.
72. Pellegrin S, Baldeweg T, Pujar S, D’Arco F, Cantalupo G, Varadkar S, Cross JH. Immunomodulation With Azathioprine Therapy in Rasmussen Syndrome: A Multimodal Evaluation. Neurology. 2021 Jan 12;96(2):e267-e279. doi: 10.1212/ WNL.0000000000011004. Epub 2020 Oct 12. PMID: 33046614.
73. Piper RJ, Tangwiriyasakul C, Shamshiri EA, Centeno M, He X, Richardson MP, Tisdall MM, Carmichael DW. Functional Connectivity of the Anterior Nucleus of the Thalamus in Pediatric Focal Epilepsy. Front Neurol. 2021 Aug 2;12:670881. doi: 10.3389/fneur.2021.670881. PMID: 34408719; PMCID: PMC8365837.
74. Piper RJ, Tangwiriyasakul C, Shamshiri EA, Centeno M, He X, Richardson MP, Tisdall MM, Carmichael DW. Functional Connectivity of the Anterior Nucleus of the Thalamus in Pediatric Focal Epilepsy. Front Neurol. 2021 Aug 2;12:670881. doi: 10.3389/fneur.2021.670881. PMID: 34408719; PMCID: PMC8365837.
75. Powell S, Fosi T, Sloneem J, Hawkins C, Richardson H, and Aylett S. Neurological presentations and cognitive outcome in Sturge-Weber syndrome Eur J Paediatr Neurol. 2021 Jul 9;34:21-32. doi: 10.1016/j.ejpn.2021.07.005.
76. Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia. 2021 Mar;62(3):615-628. doi: 10.1111/epi.16815. Epub 2021 Feb 1. PMID: 33522601.
77. Privitera M, Bhathal H, Wong M, Cross JH, Wirrell E, Marsh ED, Mazurkiewicz- Beldzinska M, Villanueva V, Checketts D, Knappertz V, VanLandingham K. Time to onset of cannabidiol (CBD) treatment effect in Lennox-Gastaut syndrome: Analysis from two randomized controlled trials. Epilepsia. 2021 May;62(5):1130-1140. doi: 10.1111/epi.16878. Epub 2021 Apr 2. PMID: 33797076; PMCID: PMC8252057.
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78. Reilly C, Muggeridge A, Cross JH. The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey. Seizure. 2021 Feb;85:111-114. doi: 10.1016/j.seizure.2020.12.024. Epub 2021 Jan 8. PMID: 33453591; PMCID: PMC7791316.
79. Roth J, Constantini S, Ekstein M, Weiner HL, Tripathi M, Chandra PS, Cossu M, Rizzi M, Bollo RJ, Machado HR, Santos MV, Keating RF, Oluigbo CO, Rutka JT, Drake JM, Jallo GI, Shimony N, Treiber JM, Consales A, Mangano FT, Wisoff JH, Teresa Hidalgo E, Bingaman WE, Gupta A, Erdemir G, Sundar SJ, Benifla M, Shapira V, Lam SK, Fallah A, Maniquis CAB, Tisdall M, Chari A, Cinalli G, Blount JP, Dorfmüller G, Christine Bulteau, Uliel-Sibony S. Epilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: A multicenter, multinational study. Epilepsia. 2021 Aug;62(8):1897-1906. doi: 10.1111/epi.16959. Epub 2021 Jun 14. PMID: 34128544.
80. Sakkaki S, Barrière S, Bender AC, Scott RC, Lenck-Santini PP. Focal Dorsal Hippocampal Nav1.1 Knock Down Alters Place Cell Temporal Coordination and Spatial Behavior. Cereb Cortex. 2020 Jul 30;30(9):5049-5066. doi: 10.1093/cercor/bhaa101. PMID: 32377688; PMCID: PMC8475810.
81. Schoeler N et al. (2021) K.Vita®: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy. Brain Comms [in press]
82. Schoeler NE, Simpson Z, Zhou R, Pujar S, Eltze C, Cross JH. Dietary Management of Children With Super-Refractory Status Epilepticus: A Systematic Review and Experience in a Single UK Tertiary Centre. Front Neurol. 2021 Mar 12;12:643105. doi: 10.3389/fneur.2021.643105. PMID: 33776895; PMCID: PMC7994594.
83. Scott RC, Wusthoff CJ. Modifiable Risk Factors in Critically Ill Children: Moving Beyond Seizures. Neurology. 2021 Apr 23:10.1212/WNL.0000000000012026. doi: 10.1212/WNL.0000000000012026. Epub ahead of print. PMID: 33893199.
84. Scott RC. Brains, complex systems and therapeutic opportunities in epilepsy. Seizure. 2021 Aug;90:155-159. doi: 10.1016/j. seizure.2021.02.001. Epub 2021 Feb 6. PMID: 33582003; PMCID: PMC8342615.
85. Sloneem J, Moss J, Powell S, Hawkins C, Fosi T, Richardson H, Aylett S. The prevalence and profile of autism in Sturge-Weber syndrome. J Autism Dev Disord. 2021 May 27. doi: 10.1007/s10803-021-05062-0. Epub ahead of print. PMID: 34043129.
86. Specchio N, Pietrafusa N, Perucca E, Cross JH. New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine. Epilepsy Behav. 2021 Apr 15:107961. doi: 10.1016/j.yebeh.2021.107961. Epub ahead of print. PMID: 33867301.
87. Surana S, Rossor T, Hassell J, Boyd S, D’Arco F, Aylett S, Bhate S, Carr L, Das K, DeVile C, Eltze C, Hemingway C, Kaliakatsos M, O’Callaghan F, Prabhakar P, Robinson R, Varadkar S, Helen Cross J, Hacohen Y. Diagnostic algorithm for children presenting with epilepsia partialis continua. Epilepsia. 2020 Oct;61(10):2224-2233. doi: 10.1111/epi.16650. Epub 2020 Sep 2. PMID: 32875551.
88. Symonds JD, McTague A. Corrigendum to “Epilepsy and developmental disorders: Next generation sequencing in the clinic” [Eur. J. Paediatr. Neurol. (2019) 15-23]. Eur J Paediatr Neurol. 2021 Jan;30:170. doi: 10.1016/j.ejpn.2020.06.011. Epub 2020 Jul 2. Erratum for: Eur J Paediatr Neurol. 2020 Jan;24:15-23. PMID: 32624379.
89. Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O’Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group. Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial. JAMA Neurol. 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789; PMCID: PMC7754080.
90. Tierney TM, Levy A, Barry DN, Meyer SS, Shigihara Y, Everatt M, Mellor S, Lopez JD, Bestmann S, Holmes N, Roberts G, Hill RM, Boto E, Leggett J, Shah V, Brookes MJ, Bowtell R, Maguire EA, Barnes GR. Mouth magnetoencephalography: A unique perspective on the human hippocampus. Neuroimage. 2021 Jan 15;225:117443. doi: 10.1016/j.neuroimage.2020.117443. Epub 2020 Oct 12. PMID: 33059052; PMCID: PMC8214102.
91. Tierney TM, Mellor S, O’Neill GC, Holmes N, Boto E, Roberts G, Hill RM, Leggett J, Bowtell R, Brookes MJ, Barnes GR. Pragmatic spatial sampling for wearable MEG arrays. Sci Rep. 2020 Dec 10;10(1):21609. doi: 10.1038/s41598-020-77589-8. PMID: 33303793; PMCID: PMC7729945.
92. Tsirka A, Liasis A, Kuczynski A, Vargha-Khadem F, Kukadia R, Dutton G, Bowman R. Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies. Dev Med Child Neurol. 2020 Nov;62(11):1324-1330. doi: 10.1111/dmcn.14650. Epub 2020 Aug 8. PMID: 32770793.
93. UK Children’s Epilepsy Surgery Collaboration. The UK experience of stereoelectroencephalography in children: An analysis of factors predicting the identification of a seizure-onset zone and subsequent seizure freedom. Epilepsia. 2021 Aug;62(8):1883- 1896. doi: 10.1111/epi.16954. Epub 2021 Jun 24. PMID: 34165813.
94. Vakharia VN, Diehl B, Tisdall M. Visual field defects in temporal lobe epilepsy surgery. Curr Opin Neurol. 2021 Apr 1;34(2):188- 196. doi: 10.1097/WCO.0000000000000905. PMID: 33664204.
95. Vargha-Khadem F, Cacucci F. A brief history of developmental amnesia. Neuropsychologia. 2021 Jan 8;150:107689. doi: 10.1016/j.neuropsychologia.2020.107689. Epub 2020 Nov 28. PMID: 33253689.
96. Volkers N, Wiebe S, Asadi-Pooya AA, Balagura G, Gómez-Iglesias P, Guekht A, Hall J, Ikeda A, Jetté N, Kishk NA, Murphy
P, Perucca E, Pérez-Poveda JC, Sanya EO, Trinka E, Zhou D, Cross JH. The initial impact of the SARS-CoV-2 pandemic on epilepsy research. Epilepsia Open. 2021 Jun;6(2):255-265. doi: 10.1002/epi4.12471. Epub 2021 Feb 26. PMID: 34033250; PMCID: PMC8013398.
97. Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource, Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nat Commun. 2020 Jul 22;11(1):3741. doi: 10.1038/s41467-020-17572-z. Erratum for: Nat Commun. 2020 Apr 8;11(1):1740. PMID: 32699324; PMCID: PMC7376041.
98. Wirrell EC, Grinspan ZM, Knupp KG, Jiang Y, Hammeed B, Mytinger JR, Patel AD, Nabbout R, Specchio N, Cross JH, Shellhaas RA. Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians. J Child Neurol. 2020 Nov;35(13):924-933. doi: 10.1177/0883073820940189. Epub 2020 Jul 15. PMID: 32666891; PMCID: PMC7364331.
99. Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/ WNL.0000000000011543. Epub 2021 Jan 27. PMID: 33504645; PMCID: PMC8032376.


Books and chapters in books
1. Chari A, Tahir MZ, Tisdall MM. ‘Robot-Assisted Stereoelectroencephalography Implantation’ in ‘Neurosurgical Robotics’. ISBN: 9781071609927
2. Chari A, Tisdall MM, Najm I. ‘Epilepsy Surgery for Malformations of Cortical Development’ in ‘Epilepsy, A Comprehensive Textbook’. [In Progress]
3. Pagnamenta AT, Wei W, Rahman S, Chinnery PF. (2021) Biparental inheritance of mitochondrial DNA revisited. Nat Rev Genet. 22(8):477-478. PMID: 34031572.
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We Need You
to help us strengthen the voice of children and young people with epilepsy and their families in research.
We have launched the first network of young people with epilepsy,
and parents of young people with epilepsy, whose sole purpose is to consult on the development of research projects across our partnership.
If you would like your experiences to ensure epilepsy research is answering the right questions in the right way, please get in contact and sign up to the E-CURe network.
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Glossary
Animal models
A non-human species used in medical research because it can mimic aspects of a disease found in humans
Assays
An investigative procedure
in laboratory medicine for measuring the presence, amount, or functional activity of a target entity
Biophysical
Methods used in physics to study biological phenomena
Calcium imaging
A technique to optically measure the calcium levels in a cell or tissue
Chronic
Long term
Co-morbidities
Medical conditions that are simultaneously present in a patient
Computational modelling
A mathematical model to study the behaviour of a complex system by computer simulation
Copy number variants
When the number of copies of a particular gene varies between individuals
Cortical
Relating to the outer layer of the uppermost part of the brain
Cox regression
A statistical test
Cryogenic
The production of, and behaviour of, materials at very low temperature
Dietetics
Branch of knowledge concerned with the diet and its effects on health
Electroencephalography (EEG)
A test that detects electrical activity in your brain using small electrodes attached to your scalp. Your brain cells communicate via electrical impulses and activity shows up as wavy lines on an EEG recording
Epidemiological
The branch of medicine which
deals with the incidence, distribution, and control of diseases
Epilepsy-dyskinesia
Disorders characterised by recurrent episodes of abnormal movements, co-occurring
with epilepsy or other episodic neurological symptoms
Epileptiform discharges
Seen on an EEG, meaning spikes, polyspikes, sharp waves, or spike and slow-wave complexes without observed clinical seizures
Epileptogenesis
The gradual process by which a normal brain develops epilepsy or, the area of epileptogenesis is the area of the brain which causes a patient’s epilepsy
Functional validation (of disease-causing genes)
The process of determining whether a particular genetic mutation is causing a disease
Genomics
The study of whole genomes of organisms, and incorporates elements from genetics
Genotype
An organism’s set of heritable genes that can be passed down from parents to offspring
Health economics
The study and understanding of how society allocates resources to healthcare and the resource needs of specific healthcare issues
Hemiparesis
Weakness of one entire side of the body
Immunofluorescence
A method in biology that relies on the use of antibodies chemically labelled with fluorescent dyes to visualise molecules under a light microscope
Intractable
Untreatable, hard to manage
Language lateralisation
The phenomenon in which one hemisphere (typically the left) shows greater involvement in language functions than the other
Lesion
A region in an organ or tissue that is abnormal from injury or disease
Magnetoencephalography (MEG)
Functional neuroimaging technique for mapping brain activity by recording magnetic fields produced by electrical currents occurring naturally in the brain
Memory lateralisation
The phenomenon in which one hemisphere (typically the left) shows greater involvement in memory functions than the other
Miss-sense mutation
A point mutation in a gene
in which a single nucleotide change results in a codon that codes for a different amino acid
Multi-omic
Or integrative omics, is a biological analysis approach in which the data sets are multiple “omes”, such as the genome, proteome, transcriptome, epigenome, metabolome, and microbiome
Myoclonia
A form of epileptic seizure manifesting with jerks of the muscles
Natural history
The progression of a disease process in an individual over time, in the absence of treatment
Pancytopenia
A condition that occurs when a person has low counts for all three types of blood cells: red blood cells, white blood cells, and platelets
Pathophysiological mechanisms
The cause of a disease associated injury
Phenotype
An individual’s observable traits, such as height, eye colour,
and blood type. The genetic contribution to the phenotype is called the genotype
PPI
Patient and public involvement
Practice paper
Evaluative summaries of scientific and evidence-based information that address practice topics. Practice papers are often done in emerging areas that might not have sound scientific data yet
Putative variants
A segment of DNA that is believed to be a gene. Putative genes can share sequence similarities to already characterised genes and thus can be inferred to share a similar function, yet the exact function of putative genes remains unknown
Sanger sequencing
A method for determining the nucleotide sequence of DNA
Status epilepticus
A single seizure lasting more than five minutes or two or more seizures within a five- minute period without the person returning to normal between them
Structural correlates
Structural anomalies which correlate to symptoms
Targeted treatment
Treatments which target specific symptoms and potential causes of disease. These treatments are disease modifying
Therapeutic radiofrequency thermocoagulation
A technique of controlled thermal ablation of tissues
Trio whole genome sequencing
Whole exome sequencing is
a comprehensive method for analysing entire genomes. Trio whole exome sequencing refers to the sequencing of the entire genome of a patient and their biological parents
Western blotting
A widely used analytical technique in molecular biology and immunogenetics to detect specific proteins in a sample of tissue extract


Young Epilepsy, the children and young people’s epilepsy charity
We exist to create a society where children and young people with epilepsy are enabled to thrive and fulfil their potential. A society in which their voices are respected and their ambitions realised. Let’s work together.
For more information on our research, or to get involved please contact:
Rosemarie Pardington
Director of Integrated Care
Email: [email protected]
twitter.com/youngepilepsy facebook.com/youngepilepsy youtube.com/youngepilepsy instagram.com/youngepilepsy thechannel.org.uk
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Tel: 01342 832243
Fax: 01342 834639
Email: [email protected] youngepilepsy.org.uk
Young Epilepsy is the operating name of The National Centre for Young People with Epilepsy. Registered Charity No: 311877 (England and Wales).
© Young Epilepsy 2022
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Publication No 403