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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.

Contact Information:

Prof Deb Pal


Miss Holly Crudgington
+44 (0)20 7848 5162
Holly.crudgington@kcl.ac.uk


More information about this study, what is involved and how to take part can be found on the study website.

Study Location:

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Be Part of Research - Trial Details - Finding out the genetic cause of Juvenile Myoclonic Epilepsy

Finding out the genetic cause of Juvenile Myoclonic Epilepsy

Medical Conditions

People with a diagnosis of Juvenile Myoclonic Epilepsy


This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.


Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, 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 the commonest GGE is “Juvenile Myoclonic Epilepsy” or JME. There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes we need to study a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to a better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up. The aim of this study is to find the genetic cause for JME by comparing the genetic code in JME patients with that in people who do not have epilepsy, using clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy.

Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.  

The recruitment start and end dates are as follows:

13 Jul 2017 30 Jun 2026

Participants provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG.


Patients aged 6 to 50 years old who have a diagnosis of Juvenile Myoclonic Epilepsy.

You can take part if:


Current inclusion criteria as of 08/05/2025:
1. Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
2. Age of myoclonus onset 6-25 years
3. Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
4. EEG interictal generalized spikes and/or polyspike and waves with normal background
5. Current a


You may not be able to take part if:


1. Myoclonus only associated with carbamazepine or lamotrigine therapy2. EEG showing predominant focal interictal epileptiform discharges or abnormal background3. Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures 4. Global learning disability 5. Dysmorphic syndrome6. Unable to provide informed consent


Below are the locations for where you can take part in the trial. Please note that not all sites may be open.

  • Leeds Teaching Hospitals NHS Trust
    St. James's University Hospital Beckett Street
    Leeds
    LS9 7TF
  • King's College Hospital
    London
    SE5 9RS
  • Cardiff University
    Cardiff
    CF10 3AT
  • Queen Elizabeth University Hospital
    1345 Govan Road
    Glasgow
    G51 4TF
  • The Newcastle upon Tyne Hospitals NHS Foundation Trust
    Freeman Hospital Freeman Road High Heaton
    Newcastle upon Tyne
    NE7 7DN
  • Darent Valley Hospital
    Darenth Wood Road
    Dartford
    DA2 8DA
  • Odense University Hospital
    Odense
    5000
  • Airedale NHS Foundation Trust
    Airedale General Hospital Skipton Road Steeton
    Keighley
    BD20 6TD
  • Bradford Teaching Hospitals NHS Foundation Trust
    Bradford Royal Infirmary Duckworth Lane
    Bradford
    BD9 6RJ
  • College of Medicine
    Swansea
    SA2 8PP
  • Charles University
    Prague
    116 36
  • Danish National Epilepsy Centre
    Dianalund
    4293
  • Tallinn Children's Hospital
    Tallinn
    13419
  • Vestre Viken Health Trust, Oslo
    Drammen
    3004
  • Italian League Against Epilepsy
    Rome
    00198
  • Hospital for Sick Kids
    Toronto
    M5G 1X8
  • Nationwide Children's Hospital
    Columbus, Ohio
    43215
  • University of Malaysia
    Kuala Lumpur
    50603
  • Guys and St Thomas' NHS Foundation Trust
    London
    SE1 7EH
  • University of Wales and Llandough Hospital NHS Trust
    Heath Park
    Cardiff
    CF14 4XW
  • Karolinska University Hospital
    Stockholm
    171 64
  • Marburg University Hospital
    Marburg
    35043
  • Sapienza University of Rome
    Rome
    00185
  • Hasbro Children's Hospital, Brown University
    Rhode Island
    02903

There is no direct benefit or risk to the research participants but the results from this study may help other people with epilepsy or brain impairments in the future. Participants may experience discomfort when providing the blood samples.

Miss Holly Crudgington
+44 (0)20 7848 5162
Holly.crudgington@kcl.ac.uk


Prof Deb Pal



More information about this study, what is involved and how to take part can be found on the study website.


The study is sponsored by King’s College London; King's College Hospital NHS Trust and funded by Canadian Institutes of Health Research.




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Read full details for Trial ID: ISRCTN30903446
Last updated 08 May 2025

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