De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Author: Syrbe, Steffen; Hedrich, Ulrike B. S.; Riesch, Erik; Djemie, Tania; Mueller, Stephan; Moller, Rikke S.; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S.; Arslan, Mutluay; Serratosa, Jose M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Loeffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Kraemer, Guenter; Schoels, Ludger; Mullis, Primus E.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Sterbova, Katalin; Craiu, Dana C.; Hoffman-Zacharska, Dorota; Korff, Christian M.; Weber, Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard, Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Zuechner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe, Peter; Helbig, Ingo; Biskup, Saskia; Wolff, Markus; Maljevic, Snezana; Schule, Rebecca; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke, Johannes R.
Tübinger Autor(en):
Hedrich, Ulrike B. S.
Synofzik, Matthis Benjamin
Detert, Katja
Wolff, Markus
Maljevic, Snezana
Lerche, Holger
Müller, Stephan
Löffler, Heidrun
Schöls, Ludger
Schüle-Freyer, Rebecca
Weber, Yvonne G.
Published in: Nature Genetics (2015), Bd. 47, H. 4, S. 393-399
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/ng.3239
ISSN: 1061-4036
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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