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?
We have currently recruited two families to the BIOJUME pedigree study. This study will soon be recruiting more participants across the UK, Europe and North America. A full list of recruiting centres will be listed here once further recruitment happens.
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:
- Hospital for Sick Kids – Dr Lisa Strug, Naim Panjwani
- Czech Republic
- Charles University – Dr Jana Zarubova, Dr Katalin Sterbová, Dr Marketa Vlckova
- Danish National Epilepsy Centre – Prof Guido Rubboli, Dr Rikke Møller, Dr Elena Gardella
- Odense Universitetshospital – Assoc. Prof Christoph Patrick Beier, Joanna Gesche
- Tallinn Children’s Hospital – Dr Inga Talvik
- University Robert Debré – Prof Stéphane Auvin
- Commissione Genetica Lega Italiana Contro l’Epilepssia – Dr Pasquale Striano, Dr Alessandro Orsini
- Università degli Studi di Catania – Dr Andrea Praticò
- University of Malaysia – Assoc. Prof Choong Yi Fong, Dr Kheng Seang Lim, Assoc. Prof Ching Ching Ng
- Vestre Viken Health Trust – Dr Jeanette Koht, Dr Kaja Selmer, Dr Marte Syvertsen
- United Kingdom
- Cardiff & Vale University Health Board – Dr Khalid Hamandi
- King’s College London/King’s College Hospital NHS Foundation Trust – Prof Deb Pal, Prof Mark Richardson, Dr Anna Smith
- Newcastle upon Tyne Hospitals NHS Foundation Trust – Dr Rhys Thomas
- Swansea University – Prof Mark Rees
- United States of America
- Nationwide Children’s Hospital – Prof David A Greenberg
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.
If you would like to find out more about this study, please contact the Study Manager, Rob McDowall, by email at firstname.lastname@example.org. We’re now recruiting at the following UK sites:
- Airedale NHS Foundation Trust
- Birmingham Women’s and Children’s NHS Foundation Trust
- Bradford Teaching Hospitals NHS Foundation Trust
- Brighton and Sussex University Hospitals NHS Trust
- Calderdale & Huddersfield Foundation Trust
- Cardiff & Vale University Health Board
- 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
- 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
- Manchester University NHS Foundation Trust
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- NHS Grampian
- NHS Tayside
- Nottingham University Hospitals NHS Trust
- Plymouth Hospitals NHS Trust
- Portsmouth Hospitals NHS Trust
- Royal Cornwall Hospitals NHS Trust
- Royal Free London NHS Foundation Trust
- Salford Royal NHS Foundation Trust
- Sandwell & West Birmingham Hospitals NHS 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 Derby and Burton NHS Foundation Trust
- University Hospitals of Morecambe Bay NHS Foundation Trust
- Walsall Healthcare NHS Trust
- West Suffolk NHS Foundation Trust
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.
Childhoodepilepsy.org has a wide range of research publications, and supporting information documents, for parents of children affected by epilepsy, clinicians and research professionals.