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Article

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

Human molecular genetics - 7 Jan 2024

Deuis Jennifer R, Kumble Smitha, Keramidas Angelo, Ragnarsson Lotten, Simons Cas, Pais Lynn, White Susan M, Vetter Irina

Abstract excerpt

Erythromelalgia (EM), is a familial pain syndrome characterized by episodic 'burning' pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium channel (NaV) NaV1.7. Over 25 different SCN9A mutations attributed to EM have been described to date, all identified in the SCN9A transcript utilizing exon 6N. Here we report a novel SCN9A missense variant identified...

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Identifiers

PMID: 37721535
DOI: 10.1093/hmg/ddad152
PMCID: PMC10772039

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