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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 ganglion neurons. Almost all physiologically characterized cases of IEM have been associated with onset in early...

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Identifiers

PMID: 19369487
DOI: 10.1093/brain/awp078

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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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Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.PMID 19369487Read ↗

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