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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...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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