De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Autor: Rik Hendrickx, Tiina Talvik, Anna-Elina Lehesjoki, Laura Ortega, Federico Zara, Tarja Linnankivi, Uluç Yiş, Barca Diana, Inga Talvik, José M. Serratosa, Johannes R. Lemke, Yvonne G. Weber, Ulrich Stephani, Petia Dimova, Andrey Kirov, Eric LeGuern, Renzo Guerrini, Cihan Meral, Holger Lerche, Peter de Witte, Sarah Weckhuysen, Christel Depienne, Helle Hjalgrim, Nina Barišić, Beatriz G. Giráldez, Katalin Sterbova, Angela Robbiano, Mutluay Arslan, Vanja Ivanović, Alexander D. Crawford, Camila V. Esguerra, Stéphanie Baulac, Pasquale Striano, Kaja Kristine Selmer, Rosa Guerrero-López, Philip Holmgren, Gerhard Kluger, Angela Kecskés, Silke Appenzeller, Vladimir Komarek, Aleksandra Siekierska, Carla Marini, Bobby P. C. Koeleman, Padhraig Gormley, Budisteanu Magdalena, Manuela Pendiziwiat, Peter De Jonghe, Eva H. Brilstra, Albena Todorova, Johanna A. Jaehn, Oana Tarta Arsene, Tatiana Afrikanova, Arvid Suls, Rikke S. Møller, Dorota Hoffman-Zacharska, Aarno Palotie, Tania Djémié, Dana Craiu, Hande Caglayan, Elżbieta Szczepanik, Gherghiceanu Rodica, Sarah von Spiczak, Felix Rosenow, Ingo Helbig, Hiltrud Muhle, Gregor Kuhlenbäumer, Catrinel Iliescu

Publikováno v: Suls, A, Jaehn, J A, Kecskés, A, Weber, Y, Weckhuysen, S, Craiu, D C, Siekierska, A, Djémié, T, Afrikanova, T, Gormley, P, von Spiczak, S, Kluger, G, Iliescu, C M, Talvik, T, Talvik, I, Meral, C, Caglayan, H S, Giraldez, B G, Serratosa, J, Lemke, J R, Hoffman-Zacharska, D, Szczepanik, E, Barisic, N, Komarek, V, Hjalgrim, H, Møller, R S, Linnankivi, T, Dimova, P, Striano, P, Zara, F, Marini, C, Guerrini, R, Depienne, C, Baulac, S, Kuhlenbäumer, G, Crawford, A D, Lehesjoki, A-E, de Witte, P A M, Palotie, A, Lerche, H, Esguerra, C V, De Jonghe, P, Helbig, I & EuroEPINOMICS RES Consortium 2013, ' De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome ', American Journal of Human Genetics, vol. 93, no. 5, pp. 967-975 . https://doi.org/10.1016/j.ajhg.2013.09.017
The American journal of human genetics
American Journal of Human Genetics, 93(5), 967-975. (2013).
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The American Journal of Human Genetics; Vol 93

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0e22ad1eaf15b4fd1ad1275cf9dca5
https://doi.org/10.1016/j.ajhg.2013.09.017