Article
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology - 8 Mar 2016
Stamberger Hannah, Nikanorova Marina, Willemsen Marjolein H, Accorsi Patrizia, Angriman Marco, Baier Hartmut, Benkel-Herrenbrueck Ira, Benoit Valérie, Budetta Mauro, Caliebe Almuth, Cantalupo Gaetano, Capovilla Giuseppe, Casara Gianluca, Courage Carolina, Deprez Marie, Destrée Anne, Dilena Robertino, Erasmus Corrie E, Fannemel Madeleine, Fjær Roar, Giordano Lucio, Helbig Katherine L, Heyne Henrike O, Klepper Joerg, Kluger Gerhard J, Lederer Damien, Lodi Monica, Maier Oliver, Merkenschlager Andreas, Michelberger Nina, Minetti Carlo, Muhle Hiltrud, Phalin Judith, Ramsey Keri, Romeo Antonino, Schallner Jens, Schanze Ina, Shinawi Marwan, Sleegers Kristel, Sterbova Katalin, Syrbe Steffen, Traverso Monica, Tzschach Andreas, Uldall Peter, Van Coster Rudy, Verhelst Helene, Viri Maurizio, Winter Susan, Wolff Markus, Zenker Martin, Zoccante Leonardo, De Jonghe Peter, Helbig Ingo, Striano Pasquale, Lemke Johannes R, Møller Rikke S, Weckhuysen Sarah
Abstract excerpt
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of...
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