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Article

Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Apr 2026

Gao Jinghan, Liu Wenmiao, Zang Yucui, Liu Shiguo

Abstract excerpt

Autism spectrum disorder (ASD) exhibits significant genetic heterogeneity, and a large number of risk genes may eventually converge on a limited number of common pathways. Among them, SCN2A, which encodes the Nav1.2α subunit of the voltage-gated sodium channel, is one of the important risk genes. This article reports a case of ASD caused by a novel mutation in SCN2A. The patient is a 6-year-old female, with the...

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Identifiers

PMID: 42023993
DOI: 10.1002/jdn.70127

Genes

SCN2A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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