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Article

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

The Journal of investigative dermatology - 1 Jun 2005

Drenth Joost P H, te Morsche Rene H M, Guillet Gerard, Taieb Alain, Kirby R Lee, Jansen Jan B M J

Abstract excerpt

Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm and painful hands, and/or feet. We previously localized the gene for primary erythermalgia to a 7.94 cM region on chromosome 2q. Recently, Yang et al identified two missense mutations of the sodium channel al...

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Identifiers

PMID: 15955112
DOI: 10.1111/j.0022-202X.2005.23737.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15955112-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.PMID 15955112Read ↗

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Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).Semantic proximity Read ↗

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