Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis. METHODS: We enrolled eight...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to HEK293 Cells
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to NAV1.7 Voltage-Gated Sodium Channel

Share to Peripheral Nervous System Diseases

Share to Rectum

Source

Identifiers

PMID: 37555797
DOI: 10.1111/jns.12590

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.PMID 37555797Read ↗

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.Semantic proximity Read ↗

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

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.Semantic proximity Read ↗

p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.Semantic proximity Read ↗

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.Semantic proximity Read ↗

Carriers of<i>SCN9A</i>variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohortSemantic proximity Read ↗

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathySemantic proximity Read ↗

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disordersSemantic proximity Read ↗

[Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment].Semantic proximity Read ↗

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7.Semantic proximity Read ↗

A Novel Homozygous Pathogenic Variant in SCN9A Gene Causing Hereditary Sensory and Autonomic Neuropathy Type ID: A Case ReportSemantic proximity Read ↗

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.