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Article

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

Neuron - 7 Dec 2006

Fertleman Caroline R, Baker Mark D, Parker Keith A, Moffatt Sarah, Elmslie Frances V, Abrahamsen Bjarke, Ostman Johan, Klugbauer Norbert, Wood John N, Gardiner R Mark, Rees Michele

Abstract excerpt

Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or OMIM 167400), is an inherited condition characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7, identified eight missense mutations in 11 families and 2 sporadic cases. Functional...

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Identifiers

PMID: 17145499
DOI: 10.1016/j.neuron.2006.10.006

Genes

PEPD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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