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Article

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2013

Klein Christopher J, Wu Yanhong, Kilfoyle Dean H, Sandroni Paola, Davis Mark D, Gavrilova Ralitza H, Low Phillip A, Dyck Peter J

Abstract excerpt

OBJECTIVE: Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically wel...

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Identifiers

PMID: 23129781
DOI: 10.1136/jnnp-2012-303719
PMCID: PMC3594382

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23129781-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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