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Article

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.

Brain : a journal of neurology - 1 Oct 2020

Tidball Andrew M, Lopez-Santiago Luis F, Yuan Yukun, Glenn Trevor W, Margolis Joshua L, Clayton Walker J, Kilbane Emma G, Miller Christopher A, Martina Bebin E, Scott Perry M, Isom Lori L, Parent Jack M

Abstract excerpt

Missense variants in the SCN8A voltage-gated sodium channel gene are linked to early-infantile epileptic encephalopathy type 13, also known as SCN8A-related epilepsy. These patients exhibit a wide spectrum of intractable seizure types, severe developmental delay, movement disorders, and elevated risk of sudden unexpected death in epilepsy. The mechanisms by which SCN8A variants lead to epilepsy are poorly...

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Identifiers

PMID: 32968789
DOI: 10.1093/brain/awaa247
PMCID: PMC7780473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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