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Article

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

Anesthesiology - 1 Feb 2015

Suter Marc R, Bhuiyan Zahurul A, Laedermann Cédric J, Kuntzer Thierry, Schaller Muriel, Stauffacher Maurice W, Roulet Eliane, Abriel Hugues, Decosterd Isabelle, Wider Christian

Abstract excerpt

BACKGROUND: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. METHODS: Description of a 4-generation family suffering from PEPD with clinical, genetic and electrophysiological studies including patch clamp experiments assessing response...

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PMID: 25285947
DOI: 10.1097/ALN.0000000000000476

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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