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Article

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Brain : a journal of neurology - 1 Jul 2009

Han Chongyang, Dib-Hajj Sulayman D, Lin Zhimiao, Li Yan, Eastman Emmanuella M, Tyrrell Lynda, Cao Xianwei, Yang Yong, Waxman Stephen G

Abstract excerpt

Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium channel Na(v)1.7 which is preferentially expressed within dorsal root ganglion (DRG) and sympathetic...

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Source

Identifiers

PMID: 19369487
DOI: 10.1093/brain/awp078

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19369487-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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