Biology of Juvenile Myoclonic Epilepsy

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Existing samples: Control DNA samples will be used that have been previously acquired in other studies.

Study 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.

Eligibility

Primary outcome measure(s)

• Genomewide DNA association study — Day 1
  Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility

Trial sites (15)