Article
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
Neurology - 26 Oct 2004
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo P G, Gambardella A, St Hilaire J-M, Kwiecinski H, Andermann E, Pandolfo M
Abstract excerpt
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....
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