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

doi:10.1186/s12883-020-01770-9

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

Community

Back to search

Article

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

BMC neurology - 13 May 2020

Stępień Adam, Sałacińska Daria, Staszewski Jacek, Durka-Kęsy Marta, Dobrogowski Jan

Abstract excerpt

BACKGROUND: To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Flushing

Share to NAV1.7 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 32404070
DOI: 10.1186/s12883-020-01770-9
PMCID: PMC7218613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.PMID 32404070Read ↗

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

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

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

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

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

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 ↗

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

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

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsSemantic proximity Read ↗

Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.Semantic proximity Read ↗

Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutationSemantic proximity Read ↗

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