Juvenile Myoclonic Epilepsy
Conditions
Keywords
JME, Epilepsy, Juvenile Myoclonic Epilepsy, Genomewide Association Study, Genetics
Brief summary
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is 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.
Detailed description
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. The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. 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. 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, this study will look at 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 better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up.
Interventions
OTHERBlood draw
Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis.
OTHERExisting samples
Control DNA samples will be used that have been previously acquired in other studies.
Sponsors
King's College Hospital NHS Trust
Charles University, Czech Republic
Hopital Universitaire Robert-Debre
Vestre Viken Hospital Trust
The Hospital for Sick Children
Cardiff University
Odense University Hospital
King's College London
Study design
Observational model
CASE_CONTROL
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
10 Years to 40 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria * Age of myoclonus onset 10-25 years * Seizures comprising predominant or exclusive early morning myoclonus of upper extremities * EEG interictal generalized spikes and/or polyspike and waves with normal background * Current age 10-40 years
Exclusion criteria
* Myoclonus only associated with carbamazepine or lamotrigine therapy * EEG showing predominant focal interictal epileptiform discharges or abnormal background * Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures * Global learning disability * Dysmorphic syndrome * Unable to provide informed consent Regrettably, we are currently unable to accept self-referrals to the BIOJUME study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genomewide DNA association study | Day 1 | Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Quantitative EEG endophenotype | Day 1 | Brain network ictogenicity is measured using quantitative EEG data |
Countries
Canada, Czechia, Denmark, Estonia, France, Italy, Norway, United Kingdom, United States
Contacts
Primary ContactDeb K Pal, MD PhD
Outcome results
None listed