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Article

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.

Journal of the neurological sciences - 15 Feb 2011

Dabby Ron, Sadeh Menachem, Gilad Ronit, Lampl Yair, Cohen Sarit, Inbar Shani, Leshinsky-Silver Esther

Abstract excerpt

BACKGROUND: Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene....

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Source

Identifiers

PMID: 21094958
DOI: 10.1016/j.jns.2010.10.006

Genes

PEPD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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