(Q34263684)

1 August 2017

title

A nonsense mutation in the SCN9A gene in congenital insensitivity to pain (English)

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congenital insensitivity to pain

1 August 2017

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author name string

Mazen Kurban

1

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1 August 2017

Muhammad Wajid

2

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1 August 2017

Yutaka Shimomura

3

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1 August 2017

Angela M Christiano

4

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1 August 2017

publication date

13 July 2010

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1 August 2017

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1 August 2017

volume

221

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1 August 2017

issue

2

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1 August 2017

page(s)

179-183

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Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

From genes to pain: Na v 1.7 and human pain disorders

6 July 2018

1 reference

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A stop codon mutation in SCN9A causes lack of pain sensation

6 July 2018

1 reference

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

6 July 2018

1 reference

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An SCN9A channelopathy causes congenital inability to experience pain

6 July 2018

1 reference

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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

6 July 2018

1 reference

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Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

6 July 2018

1 reference

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A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation

6 July 2018

1 reference

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Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

6 July 2018

1 reference

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Neuropathic pain develops normally in mice lacking both Na(v)1.7 and Na(v)1.8.

6 July 2018

1 reference

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SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

6 July 2018

1 reference

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Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

6 July 2018

1 reference

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

6 July 2018

1 reference

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Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations

6 July 2018

1 reference

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Contribution of Na(v)1.8 sodium channels to action potential electrogenesis in DRG neurons

6 July 2018

1 reference

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Sodium channel beta subunits: anything but auxiliary

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.

6 July 2018

1 reference

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The neuron as a dynamic electrogenic machine: modulation of sodium-channel expression as a basis for functional plasticity in neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

Two novel SCN9A mutations causing insensitivity to pain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2969160

28 October 2018

Identifiers

DOI

10.1159/000314692

1 reference

1 August 2017

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1 August 2017

1 reference