title: Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5.
abstract: Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The pivotal function of ionotropic gamma-aminobutyric acid type A receptors (GABRs) in inhibitory neurotransmission in the mammalian central nervous system suggests that they may be involved in epileptogenesis and genetic predisposition to IGEs. Dinucleotide repeat polymorphisms associated with the human GABAA receptor alpha 1 (GABRA1) and gamma 2 subunit (GABRG2) gene cluster on chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage analyses in 63 families ascertained through IGE patients with either juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy do not support the hypothesis that variants within the GABRA1 and GABRG2 gene cluster contribute a frequent major gene effect to the expression of the common familial IGEs.
authors: Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany.
authors: T
authors: T
authors: Sander
authors: T
authors: T
authors: Hildmann
authors: D
authors: D
authors: Janz
authors: T F
authors: TF
authors: Wienker
authors: A
authors: A
authors: Bianchi
authors: G
authors: G
authors: Bauer
authors: U
authors: U
authors: Sailer
authors: A
authors: A
authors: Scaramelli
authors: H
authors: H
authors: Neitzel
authors: B
authors: B
authors: Schmitz
authors: M E
authors: ME
authors: Bailey
authors: G
authors: G
authors: Beck-Mannagetta
authors: K J
authors: KJ
authors: Johnson
authors: M G
authors: MG
authors: Darlison
mesh_terms: D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000502:physiology; D011963:Receptors, GABA-A / Q000235:genetics* / Q000378:metabolism
chemical_list: D011963:Receptors, GABA-A