von Spiczak, Sarah

Lemke, Johannes; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; ... (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics, 45(9), pp. 1067-1072. Nature America 10.1038/ng.2728

Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes; ... (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, 93(5), pp. 967-975. Cell Press 10.1016/j.ajhg.2013.09.017