title: Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
abstract: Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.
authors.affiliation: Department of Neurology, Medical University of Vienna, Allgemeines Krankenhaus Stadt Wien, Waehringer Guertel 18-20, 1090, Vienna, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Stogmann
authors.forename: P
authors.initials: P
authors.lastname: Lichtner
authors.forename: C
authors.initials: C
authors.lastname: Baumgartner
authors.forename: M
authors.initials: M
authors.lastname: Schmied
authors.forename: C
authors.initials: C
authors.lastname: Hotzy
authors.forename: F
authors.initials: F
authors.lastname: Asmus
authors.forename: F
authors.initials: F
authors.lastname: Leutmezer
authors.forename: S
authors.initials: S
authors.lastname: Bonelli
authors.forename: E
authors.initials: E
authors.lastname: Assem-Hilger
authors.forename: K
authors.initials: K
authors.lastname: Vass
authors.forename: K
authors.initials: K
authors.lastname: Hatala
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: F
authors.initials: F
authors.lastname: Zimprich
authors.forename: A
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D017354:Point Mutation
chemical_list: D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels