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

Paroxysmal itch caused by gain-of-function Nav1.7 mutation.

Pain - 1 Sept 2014

Devigili Grazia, Eleopra Roberto, Pierro Tiziana, Lombardi Raffaella, Rinaldo Sara, Lettieri Christian, Faber Catharina G, Merkies Ingemar S J, Waxman Stephen G, Lauria Giuseppe

Abstract excerpt

Itch is a common experience. It can occur in the course of systemic diseases and can be a manifestation of allergies or a consequence of diseases affecting the somatosensory pathway. We describe a kindred characterized by paroxysmal itch caused by a variant in SCN9A gene encoding for the Nav1.7 s...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to gamma-Aminobutyric Acid
Share to NAV1.7 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pain Threshold

Share to Physical Stimulation

Share to Pruritus

Share to Treatment Outcome

Source

Identifiers

PMID: 24820863
DOI: 10.1016/j.pain.2014.05.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24820863-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paroxysmal itch caused by gain-of-function Nav1.7 mutation.PMID 24820863Read ↗

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant 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 ↗

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

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

Human pain channelopathies.Semantic proximity Read ↗

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

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

Painful and painless channelopathies.Semantic proximity Read ↗

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.Semantic proximity Read ↗

Understanding the physiological role of NaV1.9: Challenges and opportunities for pain modulation.Semantic proximity Read ↗

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