Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

ABSTRACT:

Objective

To examine the role of mutations in GABRB3 encoding the β₃ subunit of the GABA_A receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.

Methods

We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

Results

We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families. The phenotypic spectrum of the mutation carriers ranged from simple febrile seizures, genetic epilepsies with febrile seizures

SUBMITTER: Moller RS 

PROVIDER: S-EPMC5278942 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature