title: Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.
abstract: Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. A total of nine single nucleotide polymorphisms (SNPs) have been identified,five of which are novel. The previously described P11S missense mutation was found in three affected and one unaffected individuals from a French-Canadian family. However, the P11S variant was also found in one of our 190 control individuals of French-Canadian origin, suggesting that this variant is rather a rare polymorphism in this population. Further screening of other IGE cohorts from various ethnic origins would help to confirm the association between this rare functional variant and epilepsy.
authors.affiliation: CHUM Research Center, Hôpital Notre-Dame, Centre d'Excellence en Neuromique de l'Université de Montréal, Montréal, Québec, Canada.
authors.forename: Pamela
authors.initials: P
authors.lastname: Lachance-Touchette
authors.forename: Caroline
authors.initials: C
authors.lastname: Martin
authors.forename: Chantal
authors.initials: C
authors.lastname: Poulin
authors.forename: Micheline
authors.initials: M
authors.lastname: Gravel
authors.forename: Lionel
authors.initials: L
authors.lastname: Carmant
authors.forename: Patrick
authors.initials: P
authors.lastname: Cossette
mesh_terms: D000328:Adult; D002170:Canada / Q000208:ethnology; D002648:Child; D004832:Epilepsy, Absence / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics*; D005190:Family; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D008297:Male; D008800:Mexico / Q000208:ethnology; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C546273:GABRB3 protein, human; D011963:Receptors, GABA-A