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Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

par D'Agostino, D;Bertelli, Matteo;Gallo, S;Cecchin, Stefano;Albiero, E;Garofalo, Pier Gaetano;Gambardella, A;St Hilaire, J-M;Kwiecinski, H;Andermann, Eva;Pandolfo, Massimo
Référence Neurology, 63, 8, page (1500-1502)
Publication Publié, 2004-10

Article révisé par les pairs

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Résumé :

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.