phs001558
Epi4K: Whole Exome Sequencing in Multiplex Families and Pairs
Project 2 of the Epi4K: Gene Discovery in 4,000 Epilepsy Genomes project is designed to study the genetic bases of familial epilepsies, in particular genetic generalized and non-acquried (non-lesional) focal epilepsy. This exome-sequencing study consists of two parts: (1) a co-segregation analyses to identify genetic epilepsy syndromes within and across multiplex epilepsy families, and (2) to perform a case-control association study comparing unrelated cases with a family history of epilepsy to controls. As part of this study, we also exome sequenced individuals with the same types of epilepsy without family history.