Article
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Human mutation - 1 Dec 2018
Lauxmann Stephan, Verbeek Nienke E, Liu Yuanyuan, Zaichuk Mariana, Müller Stephan, Lemke Johannes R, van Kempen Marjan J A, Lerche Holger, Hedrich Ulrike B S
Abstract excerpt
Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders. Here, we studied three newly identified variants, which caused distinct phenotypes observed in nine affected individuals of three families, including BFNIE, and DEE with...
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