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Article

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

Annals of neurology - 1 Jun 2009

Fischer Tanya Z, Gilmore Elaine S, Estacion Mark, Eastman Emmanuella, Taylor Sean, Melanson Michel, Dib-Hajj Sulayman D, Waxman Stephen G

Abstract excerpt

OBJECTIVE: Human and animal studies have shown that Na(v)1.7 sodium channels, which are preferentially expressed within nociceptors and sympathetic neurons, play a major role in inflammatory and neuropathic pain. Inherited erythromelalgia (IEM) has been linked to gain-of-function mutations of Na(v)1.7. We now report a novel mutation (V400M) in a three-generation Canadian family in which pain is relieved by...

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Identifiers

PMID: 19557861
DOI: 10.1002/ana.21678
PMCID: PMC4103031

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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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