title: Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
abstract: The authors analyzed the CLCN2 chloride channel gene in 112 probands with familial epilepsy, detecting 18 common polymorphisms. Two brothers with generalized epilepsy and their asymptomatic father, and a father and son with focal epilepsy carried variants of possible functional significance that were not found in 192 controls. The authors conclude that CLCN2 mutations may be a rare cause of familial epilepsy. Further studies are needed to test if polymorphisms in this gene are associated with epilepsy.
authors.affiliation: Department of Neurology, Montreal Neurological Institute.
authors.forename: D
authors.initials: D
authors.lastname: D'Agostino
authors.forename: M
authors.initials: M
authors.lastname: Bertelli
authors.forename: S
authors.initials: S
authors.lastname: Gallo
authors.forename: S
authors.initials: S
authors.lastname: Cecchin
authors.forename: E
authors.initials: E
authors.lastname: Albiero
authors.forename: P G
authors.initials: PG
authors.lastname: Garofalo
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: J-M
authors.initials: JM
authors.lastname: St Hilaire
authors.forename: H
authors.initials: H
authors.lastname: Kwiecinski
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: M
authors.initials: M
authors.lastname: Pandolfo
mesh_terms: D000328:Adult; D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D000090007:CLC-2 Chloride Channels; D002648:Child; D018118:Chloride Channels / Q000096:biosynthesis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009433:Neural Inhibition / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D018079:Receptors, GABA / Q000235:genetics / Q000378:metabolism; D012640:Seizures / Q000235:genetics; D009435:Synaptic Transmission / Q000235:genetics
chemical_list: D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels; D012333:RNA, Messenger; D018079:Receptors, GABA