Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Author: Schubert, Julian; Siekierska, Aleksandra; Langlois, Melanie; May, Patrick; Huneau, Clement; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R.; de Kovel, Carolien G. F.; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R.; Sander, Thomas; Rueschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskes, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H.; Baulac, Stephanie; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C.; Glusman, Gustavo; Hood, Leroy; Galas, David J.; Martin, Benoit; de Witte, Peter A. M.; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nuernberg, Peter; Crawford, Alexander D.; Esguerra, Camila V.; Weber, Yvonne G.; Lerche, Holger
Tübinger Autor(en):
Schubert, Julian
Becker, Felicitas
Riesch, Erik
Biskup, Saskia
Weber, Yvonne G.
Lerche, Holger
Published in: Nature Genetics (2014), Bd. 46, H. 12, S. 1327-1332
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/ng.3130
ISSN: 1061-4036
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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