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
- PMID: 16924025 [PubMed].
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.