(Q42611687)

3 November 2017

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. (English)

1 reference

congenital insensitivity to pain

3 November 2017

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Ingo Kurth

5

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author name string

Christopher Geoffrey Woods

1

1 reference

3 November 2017

Mohamed Osman Eltahir Babiker

2

1 reference

3 November 2017

Iain Horrocks

3

1 reference

3 November 2017

John Tolmie

4

1 reference

3 November 2017

13 August 2014

1 reference

European Journal of Human Genetics

3 November 2017

1 reference

3 November 2017

23

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3 November 2017

5

1 reference

3 November 2017

561-563

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.166

3 November 2017

0 references

cites work

Gain-of-function mutations in SCN11A cause familial episodic pain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

The Nav1.9 channel regulates colonic motility in mice

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

An SCN9A channelopathy causes congenital inability to experience pain

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

The differential diagnosis of congenital analgesia and other diseases with diminished pain perception in childhood. Case report and review

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402639

16 August 2018

Identifiers

DOI

10.1038/EJHG.2014.166

1 reference

Dimensions Publication ID

3 November 2017

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1 reference

3 November 2017

1 reference