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Article

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

The Journal of clinical investigation - 1 Jan 2010

Jarecki Brian W, Piekarz Andrew D, Jackson James O, Cummins Theodore R

Abstract excerpt

Inherited mutations in voltage-gated sodium channels (VGSCs; or Nav) cause many disorders of excitability, including epilepsy, chronic pain, myotonia, and cardiac arrhythmias. Understanding the functional consequences of the disease-causing mutations is likely to provide invaluable insight into the roles that VGSCs play in normal and abnormal excitability. Here, we sought to test the hypothesis that...

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Identifiers

PMID: 20038812
DOI: 10.1172/JCI40801
PMCID: PMC2799199

Genes

PEPD

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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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