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Article

Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.

European journal of pain (London, England) - 1 Mar 2011

Staud Roland, Price Donald D, Janicke David, Andrade Edgard, Hadjipanayis Angela G, Eaton Will T, Kaplan Lee, Wallace Margaret R

Abstract excerpt

Insensitivity to pain is a rare disorder that is commonly associated with Hereditary Sensory and Autonomic Neuropathies (HSAN I-V) resulting often in autonomic dysfunction and premature death. Very few individuals have been reported with pain insensitivity lacking such autonomic neuropathies. We performed genetic, neurologic, psychological, and psychophysical evaluations in such an individual (OMIM 243000) and...

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Source

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Identifiers

PMID: 20692858
DOI: 10.1016/j.ejpain.2010.07.003
PMCID: PMC2978801

Provenance

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.

Related research

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Research trail→

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Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.PMID 20692858Read ↗

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Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.Semantic proximity Read ↗

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.Semantic proximity Read ↗

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

Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.Semantic proximity Read ↗

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

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Two novel SCN9A mutations causing insensitivity to pain.Semantic proximity Read ↗

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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.Semantic proximity Read ↗

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