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

Authors: Steffen Syrbe, Ulrike B S Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S Caglayan, Mutluay Arslan, José M Serratosa, Michael Nothnagel, Patrick May, Roland Krause, Heidrun Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Ludger Schols, Primus E Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Sterbova, Dana C Craiu, Dorota Hoffman-Zacharska, Christian M Korff, Yvonne G Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K Bernhard, Andreas Merkenschlager, Wieland Kiess, , Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R Lemke

Journal, date & volume: Nat. Genet., 2015 Apr , 47, 393-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25751627

Abstract