Article
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
Neurogenetics - 1 Dec 2005
Bassi Maria T, Balottin Umberto, Panzeri Chris, Piccinelli Paolo, Castaldo Pasqualina, Barrese Vincenzo, Soldovieri Maria V, Miceli Francesco, Colombo Maria, Bresolin Nereo, Borgatti Renato, Taglialatela Maurizio
Abstract excerpt
Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in KCNQ2 and KCNQ3, two genes encoding for potassium channel subunits. A large family with nine members affected by BFNC is described in the present study. All affected members of this family carry a novel deletion/insertion mutation in the KCNQ2 gene (c.761_770del10insA), which determines a premature truncation...
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