Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

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

Journal: Brain & development 2020;42(2):211-216

PMID: 31677917

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: [email protected].; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: [email protected].; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: [email protected].; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: [email protected].; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: [email protected].

DOI: 10.1016/j.braindev.2019.09.004

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MeSH Terms: Child, Preschool, Epilepsy, Female, Genotype, Humans, Intellectual Disability, Magnetic Resonance Imaging, Male, Mutation, NAV1.3 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders, Phenotype, Polymicrogyria, Sodium Channels