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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 severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction. Copyright © 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.


Luciana Midori Inuzuka, Lúcia Inês Macedo-Souza, Bruno Della-Ripa, Katiane S S Cabral, Fabiola Monteiro, João Paulo Kitajima, Luis Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzon. Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. Brain & development. 2020 Feb;42(2):211-216

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PMID: 31677917

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