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. 2004 Oct 26;63(8):1500-2.
doi: 10.1212/01.wnl.0000142093.94998.1a.

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

D D'Agostino  1 , M Bertelli, S Gallo, S Cecchin, E Albiero, P G Garofalo, A Gambardella, J-M St Hilaire, H Kwiecinski, E Andermann, M Pandolfo
Affiliations

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

D D'Agostino et al. Neurology. .

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.

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