Article

Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional Properties

2023-02-23

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in neuronal voltage-gated sodium (Na V ) channel genes including SCN2A , which encodes Na V 1.2, are frequently discovered in neurodevelopmental disorders with and without epilepsy. SCN2A is also a high confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID). Previous work to determine the functional consequences of SCN2A var...

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Literature Corpus work: 380c6943-500b-5b0f-bd5a-7d2d33150344
DOI: 10.1101/2023.02.23.529757

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