Biology of Juvenile Myoclonic Epilepsy

ID#: NCT03400371

Age: 10 - 40 years

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: July 13, 2017

End Date: June 30, 2020

Contact Information:
Deb K Pal, MD PhD
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.

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.