Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.

doi:10.1038/nrneurol.2010.162

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Article

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.

Nature reviews. Neurology - 1 Jan 2011

Choi Jin-Sung, Boralevi Franck, Brissaud Olivier, Sánchez-Martín Jesús, Te Morsche René H M, Dib-Hajj Sulayman D, Drenth Joost P H, Waxman Stephen G

Abstract excerpt

BACKGROUND: a 3-month-old male infant presented, beginning on the second day of life, with paroxysmal painful events that started with tonic contraction of the whole body followed by erythematous harlequin-type color changes. INVESTIGATIONS: screening of the SCN9A gene, which encodes the voltage-gated sodium channel Na(V)1.7, identified a new mutation, Gly1607Arg, located within the domain IV S4 voltage sensor....

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Topics

Chromosome Disorders
Humans
Infant
Male
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Neuralgia
Sodium Channels

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PMID: 21079636
DOI: 10.1038/nrneurol.2010.162

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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.