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Stogmann, E.* ; Lichtner, P. ; Baumgartner, C.* ; Schmied, M.* ; Hotzy, C.* ; Asmus, F.* ; Leutmezer, F.* ; Bonelli, S.* ; Assem-Hilger, E. ; Vass, K.* ; Hatala, K.* ; Strom, T.M. ; Meitinger, T. ; Zimprich, F.* ; *

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Neurogenetics 7, 265-268 (2006)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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. © Springer-Verlag 2006.
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Publication type Article: Journal article
Document type Scientific Article
Keywords CLCN2; idiopathic generalized epilepsy
Language english
Publication Year 2006
HGF-reported in Year 2006
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 7, Issue: 4, Pages: 265-268 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
Scopus ID 33750080737
Erfassungsdatum 2006-12-31