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Article

Molecular and cellular context influences SCN8A variant function.

JCI insight - 21 May 2024

Vanoye Carlos G, Abramova Tatiana V, DeKeyser Jean-Marc, Ghabra Nora F, Oudin Madeleine J, Burge Christopher B, Helbig Ingo, Thompson Christopher H, George Alfred L

Abstract excerpt

Pathogenic variants in SCN8A, which encodes the voltage-gated sodium (NaV) channel NaV1.6, associate with neurodevelopmental disorders, including developmental and epileptic encephalopathy. Previous approaches to determine SCN8A variant function may be confounded by use of a neonatally expressed, alternatively spliced isoform of NaV1.6 (NaV1.6N) and engineered mutations rendering the channel tetrodotoxin (TTX)...

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Identifiers

PMID: 38771640
DOI: 10.1172/jci.insight.177530
PMCID: PMC11383174

Genes

SCN8A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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