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Article

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Annals of neurology - 1 Apr 2018

Zaman Tariq, Helbig Ingo, Božović Ivana Babić, DeBrosse Suzanne D, Bergqvist A Christina, Wallis Kimberly, Medne Livija, Maver Aleš, Peterlin Borut, Helbig Katherine L, Zhang Xiaohong, Goldberg Ethan M

Abstract excerpt

OBJECTIVE: Voltage-gated sodium (Na+ ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β1 , are established causes of genetic epilepsies. SCN3A,...

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Identifiers

PMID: 29466837
DOI: 10.1002/ana.25188
PMCID: PMC5912987

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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