A novel GABRG2 mutation associated with febrile seizures.
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.
Audenaert
D
D
Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium.
Schwartz
E
E
Claeys
K G
KG
Claes
L
L
Deprez
L
L
Suls
A
A
Van Dyck
T
T
Lagae
L
L
Van Broeckhoven
C
C
Macdonald
R L
RL
De Jonghe
P
P
D001530:Belgium / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree; D011379:Prognosis; D011963:Receptors, GABA-A / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D003294:Seizures, Febrile / Q000235:genetics*
D011963:Receptors, GABA-A