Article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain : a journal of neurology - 1 Sept 2017
Syrbe Steffen, Harms Frederike L, Parrini Elena, Montomoli Martino, Mütze Ulrike, Helbig Katherine L, Polster Tilman, Albrecht Beate, Bernbeck Ulrich, van Binsbergen Ellen, Biskup Saskia, Burglen Lydie, Denecke Jonas, Heron Bénédicte, Heyne Henrike O, Hoffmann Georg F, Hornemann Frauke, Matsushige Takeshi, Matsuura Ryuki, Kato Mitsuhiro, Korenke G Christoph, Kuechler Alma, Lämmer Constanze, Merkenschlager Andreas, Mignot Cyril, Ruf Susanne, Nakashima Mitsuko, Saitsu Hirotomo, Stamberger Hannah, Pisano Tiziana, Tohyama Jun, Weckhuysen Sarah, Werckx Wendy, Wickert Julia, Mari Francesco, Verbeek Nienke E, Møller Rikke S, Koeleman Bobby, Matsumoto Naomichi, Dobyns William B, Battaglia Domenica, Lemke Johannes R, Kutsche Kerstin, Guerrini Renzo
Abstract excerpt
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic...
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