A novel GABRG2 mutation associated with febrile seizures

    loading  Checking for direct PDF access through Ovid

Abstract

Abstract—

Mutations in the gene encoding the γ2 subunit of the γ-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.

Related Topics

    loading  Loading Related Articles