Article
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
Brain & development - 1 Feb 2020
Inuzuka Luciana Midori, Macedo-Souza Lúcia Inês, Della-Ripa Bruno, Cabral Katiane S S, Monteiro Fabiola, Kitajima João Paulo, de Souza Godoy Luis Filipe, de Souza Delgado Daniel, Kok Fernando, Garzon Eliana
Abstract excerpt
SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a...
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