phs000654
Genetic Analyses in Epileptic Encephalopathies
Project 1 of the Epi4K: Gene Discovery in 4,000 Epilepsy Genomes project is designed to study the genetics of sporadic epileptic encephalopathies, which are a group of severe childhood epilepsy disorders for which the cause is often unknown. The study focuses on two of the more common types: infantile spasms (IS) and Lennox-Gastaut syndrome (LGS). The probands and parents studied were collected and phenotyped as part of the Epilepsy Phenome/Genome Project (EPGP). In this initial study, a total of 337 probands (IS, n=200, LGS, n=137) and their parents were exome sequenced and screened for de novo mutations.