Biology of Juvenile Myoclonic Epilepsy
King's College London
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.
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 br…
Eligibility
- Age range
- 10–40 years
- Sex
- All
- 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 f…
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.
Locations (15)
- Mount Sinai-Beth Israel Medical CenterNew York, New York
- St Luke's Roosevelt HospitalNew York, New York
- Nationwide Children's HospitalColumbus, Ohio
- Hospital for Sick KidsToronto, Ontario
- Charles UniversityPrague
- Danish National Epilepsy CentreDianalund