Biology of Juvenile Myoclonic Epilepsy

Study ID: 34096
Short Title: Biology of Juvenile Myoclonic Epilepsy
Organisation: Portsmouth Hospitals NHS Trust
Location: Queen Alexandra Hospital
Condition: Epilepsy
Main Specialty: Neurological disorders
Expected End Date: 31/03/2019
Postcode: PO6 3LY
Contact Name: PHT Research Office
Contact Email:
Active: Yes

Inclusion Criteria


a) Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria (3) • Age of 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 (b) Current age 10-40 years Note: Participants do not need to be newly diagnosed, but still must meet the above criteria.

Exclusion Criteria

a) Myoclonus only associated with carbamazepine or lamotrigine therapy (b) EEG showing predominant focal interictal epileptiform discharges or abnormal background (c) Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures (d) Global learning disability (e) Dysmorphic syndrome (f) Unable to provide informed consent

Study summary:

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. We will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. We will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy.

« Study Map« List of studies