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Article

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2014

Han Chongyang, Vasylyev Dmytro, Macala Lawrence J, Gerrits Monique M, Hoeijmakers Janneke G J, Bekelaar Kim J, Dib-Hajj Sulayman D, Faber Catharina G, Merkies Ingemar S J, Waxman Stephen G

Abstract excerpt

OBJECTIVE: Painful small fibre neuropathy (SFN) represents a significant public health problem, with no cause apparent in one-half of cases (termed idiopathic, I-SFN). Gain-of-function mutations of sodium channel NaV1.7 have recently been identified in nearly 30% of patients with biopsy-confirmed I-SFN. More recently, gain-of-function mutations of NaV1.8 have been found in patients with I-SFN. These NaV1.8...

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Identifiers

PMID: 24006052
DOI: 10.1136/jnnp-2013-306095

Genes

SFN

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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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