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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, SVolume:
47
Language:
english
Journal:
Nature Genetics
DOI:
10.1038/ng.3239
Date:
March, 2015
File:
PDF, 1.03 MB
english, 2015