bibliographicCitation |
Suls A, Jaehn J, Kecskés A, Weber Y, Weckhuysen S, Craiu D, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu C, Talvik T, Talvik I, Meral C, Caglayan H, Giraldez B, Serratosa J, Lemke J, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller R, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford A, Lehesjoki A, de Witte PM, Palotie A, Lerche H, Esguerra C, De Jonghe P, Helbig I, Hendrickx R, Holmgren P, Stephani U, Muhle H, Pendiziwiat M, Appenzeller S, Selmer K, Brilstra E, Koeleman B, Rosenow F, Leguern E, Sterbova K, Magdalena B, Rodica G, Arsene O, Diana B, Guerrero-Lopez R, Ortega L, Todorova A, Kirov A, Robbiano A, Arslan M, Yiş U, Ivanović V. De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. The American Journal of Human Genetics. 2013 Nov;93(5):967–75. doi: 10.1016/j.ajhg.2013.09.017. |