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Article

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7.

BMC medical genetics - 23 Jul 2018

He Wen, Young Gareth T, Zhang Baohong, Cox Peter J, Cho Lily Ting-Yin, John Sally, Paciga Sara A, Wood Linda S, Danziger Nicolas, Scollen Serena, Vangjeli Ciara

Abstract excerpt

BACKGROUND: Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Nav1.7, have previously been reported in subjects with CIP accompanied by anosmia, which are typically transmitted in a recessive pattern. Functional characterisations of some...

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Identifiers

PMID: 30037327
DOI: 10.1186/s12881-018-0643-4
PMCID: PMC6057094

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Source receipt: pubmed, retrieved 7 Sept 2026.

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