Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.

doi:10.1111/jns.12590

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Article

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.

Journal of the peripheral nervous system : JPNS - 1 Dec 2023

Yuan Jun-Hui, Cheng Xiaoyang, Matsuura Eiji, Higuchi Yujiro, Ando Masahiro, Hashiguchi Akihiro, Yoshimura Akiko, Nakachi Ryo, Mine Jun, Taketani Takeshi, Maeda Kenichi, Kawakami Saori, Kira Ryutaro, Tanaka Shoko, Kanai Kazuaki, Dib-Hajj Fadia, Dib-Hajj Sulayman D, Waxman Stephen G, Takashima Hiroshi

Abstract excerpt

BACKGROUND AND AIMS: Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiolo...

Topics

Peripheral Nervous System Diseases
Pain
Mutation
Humans
Rectum
NAV1.7 Voltage-Gated Sodium Channel
Erythromelalgia
HEK293 Cells

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Identifiers

PMID: 37555797
DOI: 10.1111/jns.12590

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-37555797-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.