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Article

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.

Pain - 1 Jul 2022

Marchi Margherita, D'Amato Ilaria, Andelic Mirna, Cartelli Daniele, Salvi Erika, Lombardi Raffaella, Gumus Evren, Lauria Giuseppe

Abstract excerpt

ABSTRACT: Mutations in the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), encoded by SCN9A gene, play an important role in the regulation of nociception and can lead to a wide range of clinical outcomes, ranging from extreme pain syndromes to congenital inability to experience pain....

Topics

Alternative Splicing
Humans
Introns
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Pain
Pain Insensitivity, Congenital
RNA

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34799533
DOI: 10.1097/j.pain.0000000000002535
PMCID: PMC9199108

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-34799533-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.PMID 34799533Read ↗

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