Article
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Brain : a journal of neurology - 1 Apr 2013
Boissé Lomax Lysa, Bayly Marta A, Hjalgrim Helle, Møller Rikke S, Vlaar Annemarie M, Aaberg Kari M, Marquardt Iris, Gandolfo Luke C, Willemsen Michèl, Kamsteeg Erik-Jan, O'Sullivan John D, Korenke G Christoph, Bloem Bastiaan R, de Coo Irenaeus F, Verhagen Judith M A, Said Ines, Prescott Trine, Stray-Pedersen Asbjørg, Rasmussen Magnhild, Vears Danya F, Lehesjoki Anna-Elina, Corbett Mark A, Bahlo Melanie, Gecz Jozef, Dibbens Leanne M, Berkovic Samuel F
Abstract excerpt
We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including six new un...
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