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

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].

Nederlands tijdschrift voor geneeskunde - 28 Jan 2006

Drenth J P H, te Morsche R H M, Michiels J J

Abstract excerpt

Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of...

Read the complete abstract on PubMed

Topics

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

Share to Erythromelalgia
Share to Mutation
Share to NAV1.7 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nervous System Diseases

Share to Sodium Channels

Source

Identifiers

PMID: 16471234

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

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].PMID 16471234Read ↗

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

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.Semantic proximity Read ↗

Erythermalgia: molecular basis for an inherited pain syndrome.Semantic proximity Read ↗

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.Semantic proximity Read ↗

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

Primary erythromelalgia: a review.Semantic proximity Read ↗

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.Semantic proximity Read ↗

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

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.Semantic proximity Read ↗

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

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

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.Semantic proximity Read ↗

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