January 17, 2018

Biology of Juvenile Myoclonic Epilepsy (BIOJUME) Clinical Trial

Investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1,000 people with Juvenile Myoclonic Epilepsy. This study will draw on both existing and new samples. These will be compared to anonymized data from samples for 2,000 controls. The goal of this study is to find the genetic cause of Juvenile Myoclonic Epilepsy. Finding the cause will help create better treatments, as well as improve patient outcomes by enabling earlier detection.

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