De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
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Published:2015-03-09
Issue:4
Volume:47
Page:393-399
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
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 PatrickORCID, 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
Publisher
Springer Science and Business Media LLC
Reference35 articles.
1. Capovilla, G., Wolf, P., Beccaria, F. & Avanzini, G. The history of the concept of epileptic encephalopathy. Epilepsia 54 (suppl. 8), 2–5 (2013). 2. Guerrini, R. & Pellock, J.M. Age-related epileptic encephalopathies. Handb. Clin. Neurol. 107, 179–193 (2012). 3. Claes, L. et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327–1332 (2001). 4. Nava, C. et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat. Genet. 46, 640–645 (2014). 5. Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 501, 217–221 (2013).
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