Phenotypic analysis of 303 multiplex families with common epilepsies.

ABSTRACT: Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses. Families with three or more individuals with unprovoked seizures were studied across multiple international centres. Affected individuals we

SUBMITTER: Epi4K Consortium 

PROVIDER: S-EPMC6059182 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature