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Article

Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.

Channels (Austin, Tex.) - 1 Jan 2000

Jarecki Brian W, Sheets Patrick L, Xiao Yucheng, Jackson James O, Cummins Theodore R

Abstract excerpt

Alternative splicing is known to alter pharmacological sensitivities, kinetics, channel distribution under pathological conditions, and developmental regulation of VGSCs. Mutations that alter channel properties in Na(V)1.7 have been genetically implicated in patients with bouts of extreme pain classified as inherited erythromelalgia (IEM) or paroxysmal extreme pain disorder (PEPD). Furthermore, patients with IEM...

Topics

Alternative Splicing
Electrophysiology
Erythromelalgia
Exons
Humans
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Phenotype
Sodium Channels
Somatoform Disorders

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Open in PubMed Open full text

Identifiers

PMID: 19633428
DOI: 10.4161/chan.3.4.9341
PMCID: PMC2856339

Genes

PEPD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19633428-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.PMID 19633428Read ↗

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