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Article

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.

Molecular pain - 29 Apr 2010

Cheng Xiaoyang, Dib-Hajj Sulayman D, Tyrrell Lynda, Wright Dowain A, Fischer Tanya Z, Waxman Stephen G

Abstract excerpt

BACKGROUND: Two groups of gain-of-function mutations in sodium channel NaV1.7, which are expressed in dorsal root ganglion (DRG) neurons, produce two clinically-distinct pain syndromes - inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). IEM is characterized by intermittent burning pain and skin redness in the feet or hands, triggered by warmth or mild exercise, while PEPD is...

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Identifiers

PMID: 20429905
DOI: 10.1186/1744-8069-6-24
PMCID: PMC2876140

Genes

PEPD

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.PMID 20429905Read ↗

Structural basis for severe pain caused by mutations in the S4-S5 linkers of voltage-gated sodium channel NaV1.7.Semantic proximity Read ↗

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Deletion mutation of sodium channel NaV1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitabilitySemantic proximity Read ↗

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