Biology of Juvenile Myoclonic Epilepsy: Pedigree Study
Research type
Research Study
Full title
Biology of Juvenile Myoclonic Epilepsy: Pedigree Study
IRAS ID
208386
Contact name
Deb Pal
Contact email
Sponsor organisation
Kings College, London
Duration of Study in the UK
4 years, 2 months, 0 days
Research summary
The study described here is a pedigree study which looks at the individuals within families where at least one member has a diagnosis of Junior Myoclonic Epilepsy (JME). A pedigree study investigates a particular inherited trait (in this case JME) in a group of related individuals to determine the pattern and characteristics of the trait, including how it is inherited and variability in how it effects individuals. By observing in whom a specific biological trait or ‘marker’ occurs, in this case in the form of an unusual EEG pattern, we can divide these individuals into two groups, where the marker is either present or absent. We also aim to test individuals within these families on tests sensitive to JME measuring literacy, visuospatial reasoning attention and working memory. We will recruit the families (first degree relatives) of people with JME to test the hypothesis that those with the biological marker will have more deficits on these tests than those without the marker. A further aim will be to use this affectedness information to both discover closely linked genes related to JME, and to further inform the accompanying genome wide association study.
REC name
North West - Preston Research Ethics Committee
REC reference
17/NW/0271
Date of REC Opinion
19 May 2017
REC opinion
Further Information Favourable Opinion