Article
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
American journal of human genetics - 13 May 2011
Corbett Mark A, Schwake Michael, Bahlo Melanie, Dibbens Leanne M, Lin Meng, Gandolfo Luke C, Vears Danya F, O'Sullivan John D, Robertson Thomas, Bayly Marta A, Gardner Alison E, Vlaar Annemarie M, Korenke G Christoph, Bloem Bastiaan R, de Coo Irenaeus F, Verhagen Judith M A, Lehesjoki Anna-Elina, Gecz Jozef, Berkovic Samuel F
Abstract excerpt
The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21....
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