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

Autor: Syrbe, Steffen, Hedrich, Ulrike B S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Riesch, Erik, 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, Djémié, Tania, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, consortium, EuroEPINOMICS RES, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, Müller, Stephan, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R, Møller, Rikke S, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande S, Depienne, Christel, Gormley, Padhraig, Guerrini, Renzo, Maher, Bridget, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P C, Komarek, Vladimir, LeGuern, Eric, Hernandez-Hernandez, Laura, Marini, Carla, Muhle, Hiltrud, Pal, Deb, Rosenow, Felix, Selmer, Kaja, Synofzik, Matthis, Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Zara, Federico

Publikováno v: Nature genetics
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
Nature Genetics
Syrbe, S, Hedrich, U B S, Riesch, E, Djémié, T, Müller, S, Møller, R S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H S, Arslan, M, Serratosa, J M, Nothnagel, M, May, P, Krause, R, Löffler, H, Detert, K, Dorn, T, Vogt, H, Krämer, G, Schöls, L, Mullis, P E, Linnankivi, T, Lehesjoki, A-E, Sterbova, K, Craiu, D C, Hoffman-Zacharska, D, Korff, C M, Weber, Y G, Steinlin, M, Gallati, S, Bertsche, A, Bernhard, M K, Merkenschlager, A, Kiess, W, Gonzalez, M, Züchner, S, Palotie, A, Suls, A, De Jonghe, P, Helbig, I, Biskup, S, Wolff, M, Maljevic, S, Schüle, R, Sisodiya, S M, Weckhuysen, S, Lerche, H, Lemke, J R & EuroEPINOMICS RES Consortium 2015, ' De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy ', Nature Genetics, vol. 47, no. 4, pp. 393–399 . https://doi.org/10.1038/ng.3239
Nature Genetics, Vol. 47, No 4 (2015) pp. 393-399

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features(1-6). Using next-generation sequencing, we identified four different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2071fa6bcf061a00ed6950fd7b8a9a4
http://europepmc.org/articles/PMC4380508

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Autor: Suls A; Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium., Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I

Publikováno v: American journal of human genetics [Am J Hum Genet] 2013 Nov 07; Vol. 93 (5), pp. 967-75. Date of Electronic Publication: 2013 Oct 24.