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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; ... Krawitz, Peter M 2018
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De novo variants in neurodevelopmental disorders with epilepsy Heyne, Henrike O; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; ... Lemke, Johannes R 2018
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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers Weckhuysen, Sarah; Holmgren, Philip; Hendrickx, Rik; Jansen, Anna C; ... Suls, Arvid 2013
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The spectrum of intermediate SCN8A-related epilepsy Johannesen, Katrine M; Gardella, Elena; Encinas, Alejandra C; Lehesjoki, Anna-Elina; ... Møller, Rikke S 2019