title: Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes.
abstract: Alpha 5 and beta 3 GABAA receptor genes are major candidates for epilepsy, as they code for subunits of the most important human inhibitory neurotransmitter. Moreover, they are located within a region of the human genome previously implicated in disorders including epilepsy. We carried out an association study between dinucleotide repeat polymorphisms in these two genes and juvenile myoclonic epilepsy (JME). JME is the most common idiopathic epilepsy and is characterized by a complex mode of inheritance. We did not find significant differences between controls and patients for allele or genotype frequencies.
authors.affiliation: Laboratoire de Médecine Expérimentale, Institut de Biologie, INSERM U 249-CNRS UPR 9008, Montpellier, France.
authors.forename: M
authors.initials: M
authors.lastname: Guipponi
authors.forename: P
authors.initials: P
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Girard-Reydet
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: M
authors.initials: M
authors.lastname: Baldy-Moulinier
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D005810:Multigene Family; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: D011963:Receptors, GABA-A