Biology of Juvenile Myoclonic Epilepsy

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.

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.