title: A novel GABRG2 mutation associated with febrile seizures.
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.
authors.affiliation: Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: Audenaert
authors.forename: E
authors.initials: E
authors.lastname: Schwartz
authors.forename: K G
authors.initials: KG
authors.lastname: Claeys
authors.forename: L
authors.initials: L
authors.lastname: Claes
authors.forename: L
authors.initials: L
authors.lastname: Deprez
authors.forename: A
authors.initials: A
authors.lastname: Suls
authors.forename: T
authors.initials: T
authors.lastname: Van Dyck
authors.forename: L
authors.initials: L
authors.lastname: Lagae
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: R L
authors.initials: RL
authors.lastname: Macdonald
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: 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*
chemical_list: D011963:Receptors, GABA-A