Finding out the genetic cause of Juvenile Myoclonic Epilepsy

Not Applicable

• Conditions: People with a diagnosis of Juvenile Myoclonic Epilepsy; Nervous System Diseases; Juvenile Myoclonic Epilepsy

• Registration Number: ISRCTN30903446
• Lead Sponsor: King’s College London

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-12-18
• Last Update Posted: 22 April 2024
• Study Completion: 2026-09-30

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 1000

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

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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