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Published on: June 6, 2025
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes
E Stogmann1, P Lichtner, C Baumgartner
1Department of Neurology, Medical University of Vienna, Allgemeines Krankenhaus Stadt Wien, Waehringer Guertel 18-20, 1090, Vienna, Austria.
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.
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