A novel GABRG2 mutation associated with febrile seizures
Audenaert, D × Schwartz, E Claeys, Kristl Claes, L Deprez, L Suls, A Van Dyck, T Lagae, Lieven Van Broeckhoven, C Macdonald, R L De Jonghe, P #
Lippincott williams & wilkins
Neurology vol:67 issue:4 pages:687-90
Mutations in the gene encoding the gamma2 subunit of the gamma-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.