Referenced in: none

Automatically associated channels: ClC2 , ClC4

Title: Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

Authors: D D'Agostino, M Bertelli, S Gallo, S Cecchin, E Albiero, P G Garofalo, A Gambardella, J-M St Hilaire, H Kwiecinski, E Andermann, M Pandolfo

Journal, date & volume: Neurology, 2004 Oct 26 , 63, 1500-2

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15505175

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.