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

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.

BMC medical genomics - 15 Jul 2022

Hua Yi, Cui Di, Han Lin, Xu Lu, Mao Shanshan, Yang Cuiwei, Gao Feng, Yuan Zhefeng

Abstract excerpt

BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. PEPD is a sodium channel dysfunctional disorder caused by SCN9A gene variants. It occurs mainly in Caucasians and only one case has been reported in the Chinese...

Read the complete abstract on PubMed

Topics

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

Share to Autonomic Nervous System Diseases
Share to Bradycardia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flushing

Share to NAV1.7 Voltage-Gated Sodium Channel

Share to Rectum

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 35840956
DOI: 10.1186/s12920-022-01302-z
PMCID: PMC9287976

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.PMID 35840956Read ↗

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.Semantic proximity Read ↗

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.Semantic proximity Read ↗

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).Semantic proximity Read ↗

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

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

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.Semantic proximity Read ↗

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

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

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.Semantic proximity Read ↗

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.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 ↗

Primary erythromelalgia: a review.Semantic proximity Read ↗

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