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Article

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.

The Journal of biological chemistry - 24 Nov 2006

Lampert Angelika, Dib-Hajj Sulayman D, Tyrrell Lynda, Waxman Stephen G

Abstract excerpt

The Nav1.7 sodium channel is preferentially expressed in most nociceptive dorsal root ganglion neurons and in sympathetic neurons. Inherited erythromelalgia (IEM, also known as erythermalgia), an autosomal dominant neuropathy characterized by burning pain in the extremities in response to mild warmth, has been linked to mutations in Nav1.7. Recently, a substitution of Ser-241 by threonine (S241T) in the domain I...

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Identifiers

PMID: 17008310
DOI: 10.1074/jbc.M607637200

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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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Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.PMID 17008310Read ↗

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.Semantic proximity Read ↗

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.Semantic proximity Read ↗

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.Semantic proximity Read ↗

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.Semantic proximity Read ↗

Structural basis for severe pain caused by mutations in the S4-S5 linkers of voltage-gated sodium channel NaV1.7.Semantic proximity Read ↗

Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.Semantic proximity Read ↗

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.Semantic proximity Read ↗

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Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.Semantic proximity Read ↗

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.Semantic proximity Read ↗

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