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A novel GABRG2 mutation associated with febrile seizures.


AUTHORS

Audenaert D , Schwartz E , Claeys KG , Claes L , Deprez L , Suls A , Van Dyck T , Lagae L , Van Broeckhoven C , Macdonald RL , De Jonghe P , . Neurology. primary| primary| primary| primary| primary| primary| primary| primary| primary| primary| primary 8 22; 67(4). 687-90

ABSTRACT

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.