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Article

Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

Brain : a journal of neurology - 1 Apr 2016

McDonnell Aoibhinn, Schulman Betsy, Ali Zahid, Dib-Hajj Sulayman D, Brock Fiona, Cobain Sonia, Mainka Tina, Vollert Jan, Tarabar Sanela, Waxman Stephen G

Abstract excerpt

Inherited erythromelalgia, the first human pain syndrome linked to voltage-gated sodium channels, is widely regarded as a genetic model of human pain. Because inherited erythromelalgia was linked to gain-of-function changes of sodium channel Na(v)1.7 only a decade ago, the literature has mainly consisted of reports of genetic and/or clinical characterization of individual patients. This paper describes the...

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PMID: 26920677
DOI: 10.1093/brain/aww007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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