Article
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature genetics - 1 Apr 2015
Syrbe Steffen, Hedrich Ulrike B S, Riesch Erik, Djémié Tania, Müller Stephan, Møller Rikke S, Maher Bridget, Hernandez-Hernandez Laura, Synofzik Matthis, Caglayan Hande S, Arslan Mutluay, Serratosa José M, Nothnagel Michael, May Patrick, Krause Roland, Löffler Heidrun, Detert Katja, Dorn Thomas, Vogt Heinrich, Krämer Günter, Schöls 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, Züchner Stephan, Palotie Aarno, Suls Arvid, De Jonghe Peter, Helbig Ingo, Biskup Saskia, Wolff Markus, Maljevic Snezana, Schüle Rebecca, Sisodiya Sanjay M, Weckhuysen Sarah, Lerche Holger, Lemke Johannes R
Abstract excerpt
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times...
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