Biology of Juvenile Myoclonic Epilepsy

Study Overview
=================
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.

Official Title
-----------------
Biology of Juvenile Myoclonic Epilepsy

Conditions
-----------------
Juvenile Myoclonic Epilepsy

Intervention / Treatment
-----------------
* Other: Blood draw
* Other: Existing samples


Participation Criteria
=================
Eligibility Criteria
-----------------
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.

Ages Eligible for Study
-----------------
Minimum Age: 10 Years
Maximum Age: 40 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients diagnosed with JME<br>People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy. | Other: Blood draw<br>* 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.<br>|
| Controls<br>People without a lifetime history of seizures. | Other: Existing samples<br>* Control DNA samples will be used that have been previously acquired in other studies.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genomewide DNA association study | 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 | Day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantitative EEG endophenotype | Brain network ictogenicity is measured using quantitative EEG data | Day 1 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
JME, Epilepsy, Juvenile Myoclonic Epilepsy, Genomewide Association Study, Genetics