Article

Molecular and Cellular Context Influences SCN8A Variant Function

2023-11-13

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in SCN8A , which encodes the voltage-gated sodium (Na V ) channel Na V 1.6, are associated with neurodevelopmental disorders including epileptic encephalopathy. Previous approaches to determine SCN8A variant function may be confounded by the use of a neonatal-expressed alternatively spliced isoform of Na V 1.6 (Na V 1.6N), and engineered mutations to render the channel...

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Literature Corpus work: 66dd6da4-1f9e-5928-bb86-448b3dafd4a6
DOI: 10.1101/2023.11.11.566702

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