Biology of Juvenile Myoclonic Epilepsy

Why it matters?

Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsies, some common and some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and most prevalent GGE is Juvenile Myoclonic Epilepsy (JME). The goal of this study is to find the genetic cause for JME. We will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. To help us do this, we will use clues from their electroencephalograph (EEG) or brainwave test that is used to help diagnose epilepsy.

What we are doing?

We are collecting genetic information through blood samples and EEG data from over 1000 people with JME across the UK, Europe and North America. This data will be used to find the genetic cause of JME. Finding the cause will help create better treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.

When will this study be recruiting?

This study will soon be recruiting participants across the UK, Europe and North America. A full list of recruiting centres will be listed here once recruitment begins.

What will participants be asked to do?

For this study participants will undergo a single blood test and may also do an EEG recording at the hospital (if they haven’t already had one done).

Who can take part?

Anyone who is currently 10 to 40 years old and who started to have symptoms of JME between the ages of 10 and 25 years old can take part.

Who is conducting the research?

Professor Deb Pal at King’s College London is the Chief Investigator of this study along with co-investigators Dr Lisa Strug (University of Toronto) and Professor Mark Richardson (King’s College London). There is also a large consortium of collaborating partners for this study:

  • Dr Amedeo Bianchi (Lega Italiana contro l’Epilepssia)
  • Dr Anna Smith (King’s College London)
  • Professor Antony Marson (The Walton Centre)
  • Professor David A Greenberg (Nationwide Children’s Hospital)
  • Dr Eva Kumlien (Uppsala University Hospital)
  • Dr Federico Zara (Lega Italiana contro l’Epilepssia)
  • Professor Guido Rubboli (University of Copenhagen)
  • Guiseppe Capovilla (Lega Italiana contro l’Epilepssia)
  • Dr Inga Talvik (Tallinn Children’s Hospital)
  • Dr Jeanette Koht (Oslo University Hospital)
  • Dr Kaja Selmer (Oslo University Hospital)
  • Dr Khalid Hamandi (Cardiff University)
  • Professor Mark Rees (Swansea University)
  • Dr Marte Syvertsen (Vestre Viken Hospital Trust)
  • Professor Michalis Koutroumanidis (King’s College London)
  • Dr Pasquale Striano (Lega Italiana contro l’Epilepssia)
  • Dr Rhys Thomas (Cardiff University)
  • Associate Professor Rikke Møller (Danish Epilepsy Centre)
  • Professor Stéphane Auvin (University Robert Debré)
  • Associate Professor Steven Wolf (Mount Sinai-Beth Israel Medical Center and St Luke’s – Roosevelt Hospital)
Who has reviewed this study?

This study is supported by the Canadian Institutes for Health Research and has been reviewed by scientific experts and the South Central – Oxford C Research Ethics Committee.

Interested?

If you would like to find out more about this study, please contact the Study Manager, Rob McDowall, by email at robert.mcdowall@kcl.ac.uk. We’re now recruiting at the following UK sites:

  • Airedale NHS Foundation Trust
  • Brighton and Sussex University Hospitals NHS Trust
  • Calderdale & Huddersfield Foundation Trust
  • County Durham and Darlington NHS Foundation Trust
  • Croydon Health Services NHS Trust
  • Dartford and Gravesham NHS Trust
  • East and North Hertfordshire NHS Trust
  • East Kent Hospitals University NHS Foundation Trust
  • East Lancashire Hospitals NHS Trust
  • Guy’s and St Thomas’ NHS Foundation Trust
  • Hampshire Hospitals NHS Foundation Trust
  • Heart of England NHS Foundation Trust
  • King’s College Hospital NHS Foundation Trust
  • Kingston Hospital NHS Foundation Trust
  • Lancashire Teaching Hospitals NHS Foundation Trust
  • Leeds Teaching Hospitals NHS Trust
  • Plymouth Hospitals NHS Trust
  • Portsmouth Hospitals NHS Trust
  • Royal Cornwall Hospitals NHS Trust
  • Royal Free London NHS Foundation Trust
  • Sheffield Teaching Hospitals NHS Foundation Trust
  • Southport and Ormskirk Hospital NHS Trust
  • St George’s University Hospitals NHS Foundation Trust
  • Taunton & Somerset NHS Foundation Trust
  • The Mid Yorkshire Hospitals NHS Trust
  • The Royal Wolverhampton NHS Trust
  • The Walton Centre NHS Foundation Trust
  • University Hospitals of Morecambe Bay NHS Foundation Trust
  • Walsall Healthcare NHS Trust
  • West Suffolk NHS Foundation Trust
Further information:

About our research

We are a research group from King’s College London dedicated to finding the cause of childhood epilepsies. Our research explores the genetics of childhood epilepsy in order to improve the outlook for both diagnosis and treatment.

Publications

Childhoodepilepsy.org has a wide range of research publications, and supporting information documents, for parents of children affected by epilepsy, clinicians and research professionals.

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Neuroimaging and Cognition in Rolandic Epilepsy (CREME)

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Epileptic Encephalopathies Longitudinal Multicentre Omics (DESIRE-ELMO)

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Myoclonic Astatic Epilepsy Study

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Biology of Juvenile Myoclonic Epilepsy (BIOJUME)

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Functional Analysis and Rescue of Epilepsy-Associated GRIN2A Mutations

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Rolandic Epilepsy Genomewide Association International Study (REGAIN)

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Changing Agendas on Sleep, Treatment and Learning in Childhood Epilepsy (CASTLE)

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