Finding out the genetic cause of Juvenile Myoclonic Epilepsy

• Register: ISRCTN
• Last refreshed on: 22 April 2024
• Main ID: ISRCTN30903446
• Date of registration: 18/12/2017
• Prospective Registration: No
• Primary sponsor: King’s College London
• Public title: Finding out the genetic cause of Juvenile Myoclonic Epilepsy
• Scientific title: Biology of Juvenile Myoclonic Epilepsy
• Date of first enrolment: 13/07/2017
• Target sample size: 1000
• Recruitment status: Ongoing
• URL: https://www.isrctn.com/ISRCTN30903446
• Study type: Observational
• Study design: Observational cross sectional study (Screening)
• Phase: Not Applicable

Countries of recruitment

Canada, Czech Republic, Denmark, England, Estonia, France, Italy, Malaysia, Norway, United Kingdom, United States of America, Wales

Contacts

• Name: Deb Pal

• Name: Holly Crudgington

Key inclusion & exclusion criteria

Inclusion criteria: 1. Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
2. Age of myoclonus onset 10-25 years
3. Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
4. EEG interictal generalized spikes and/or polyspike and waves with normal background
5. Current age 10-40 years
Exclusion criteria: 1. Myoclonus only associated with carbamazepine or lamotrigine therapy
2. EEG showing predominant focal interictal epileptiform discharges or abnormal background
3. Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
4. Global learning disability
5. Dysmorphic syndrome
6. Unable to provide informed consent

Age minimum:
Age maximum:
Gender: Both

Health Condition(s) or Problem(s) studied

People with a diagnosis of Juvenile Myoclonic Epilepsy
Nervous System Diseases
Juvenile Myoclonic Epilepsy

Intervention(s)

Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood is taken from the antecubital fossa. The DNA from the blood sample is then extracted and resequenced for analysis.

Primary Outcome(s)

Association between SNP marker and phenotype is measured using genomewide DNA markers at a single timepoint

Secondary Outcome(s)

Brain network ictogenicity is measured using quantitative EEG data at a single timepoint

Secondary ID(s)

CIHR ID: MOP-142405, IRAS Project ID: 199351

NCT03400371

Source(s) of Monetary Support

Canadian Institutes of Health Research

Secondary Sponsor(s)

King's College Hospital NHS Trust

Ethics review

Status:
Approval date:
Contact:

Old ethics approval format; South Central - Oxford C NHS Research Ethics Committee, 08/12/2016, ref: 16/SC/0266

Results

• Results available: Yes
• Date Completed: 30/09/2026