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Article

Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.

Annals of neurology - 1 Jan 2013

Persson Anna-Karin, Liu Shujun, Faber Catharina G, Merkies Ingemar S J, Black Joel A, Waxman Stephen G

Abstract excerpt

Small-fiber neuropathy (SFN) is characterized by injury to small-diameter peripheral nerve axons and intraepidermal nerve fibers (IENF). Although mechanisms underlying loss of IENF in SFN are poorly understood, available data suggest that it results from axonal degeneration and reduced regenerative capacity. Gain-of-function variants in sodium channel Na(V)1.7 that increase firing frequency and spontaneous firing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23280954
DOI: 10.1002/ana.23725

Genes

SFN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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