Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors.

ABSTRACT:

Objective

To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individuals who manifest features of both types (combined epilepsies), and in families manifesting both generalized and focal epilepsies in separate individuals (mixed families).

Methods

We analyzed the deeply phenotyped Epi4K cohort of multiplex families (≥3 affected individuals per family) using methods that quantify the aggregation of phenotypes within families and the relatedness of individuals with different phenotypes within family pedigrees.

Results

The cohort included 281 families containing 1021 individuals with generalized (n = 484), focal (304), combined (51), or unclassified (182) epilepsies. The odds of combined epilepsy was higher in

SUBMITTER: Ellis CA 

PROVIDER: S-EPMC7725856 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature