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Article

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 20 May 2015

Emery Edward C, Habib Abdella M, Cox James J, Nicholas Adeline K, Gribble Fiona M, Woods C Geoffrey, Reimann Frank

Abstract excerpt

The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation. Gain-of-function mutations are typically pain-causing and have been associated with inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). IEM is usually caused by enhanced NaV1.7 channel activation, whereas mutations that...

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Source

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Identifiers

PMID: 25995458
DOI: 10.1523/JNEUROSCI.3935-14.2015
PMCID: PMC4438121

Genes

PEPD

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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