Biology of Juvenile Myoclonic Epilepsy

Description

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.

Conditions

Juvenile Myoclonic Epilepsy

Study Overview

Study Details

Study overview

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.

Biology of Juvenile Myoclonic Epilepsy

Biology of Juvenile Myoclonic Epilepsy

Condition
Juvenile Myoclonic Epilepsy
Intervention / Treatment

-

Contacts and Locations

New York

Mount Sinai-Beth Israel Medical Center, New York, New York, United States, 10003

New York

St Luke's Roosevelt Hospital, New York, New York, United States, 10025

Columbus

Nationwide Children's Hospital, Columbus, Ohio, United States, 43125

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

10 Years to 40 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

King's College London,

K Pal, MD PhD, PRINCIPAL_INVESTIGATOR, King's College London

Study Record Dates

2026-06-30