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NEUROLOGY 2004;63:1500-1502
© 2004 American Academy of Neurology
Brief Communications

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

D. D’Agostino, MD, M. Bertelli, MD, S. Gallo, BSc, S. Cecchin, BSc, E. Albiero, BSc, P. G. Garofalo, MD, A. Gambardella, MD, J.-M. St. Hilaire, MD, H. Kwiecinski, MD, E. Andermann, MD PhD and M. Pandolfo, MD

From the Department of Neurology (Drs. D’Agostino and Andermann), Montreal Neurological Institute; Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus (Dr. Bertelli, S. Gallo, S. Cecchin, and E. Albiero), Costozza, Vicenza; Centro Epilessie (Dr. Garofalo), Ospedale S. Bortolo, Vicenza, Italy; Institute of Neurology (Dr. Gambardella), School of Medicine, Catanzaro, Italy; Centre Hospitalier de l’Université de Montréal (Dr. St. Hilaire), Montréal, Québec, Canada; Medical University of Warsaw (Dr. Kwiecinski), Poland; and Department of Neurology (Dr. Pandolfo), Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

Address correspondence and reprint requests to Dr. Pandolfo, Service de Neurologie, Hôpital Erasme, Route de Lennik 808, 1070 Bruxelles, Belgium; e-mail: massimo.pandolfo{at}ulb.ac.be

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.

Received August 10, 2003. Accepted in final form June 14, 2004.




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