Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia (Q36727094)

15 August 2017

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia (English)

1 reference

15 August 2017

1 reference

Mark E Samuels

1

1 reference

15 August 2017

Rene H M te Morsche

series ordinal

2

1 reference

15 August 2017

Mary E Lynch

series ordinal

3

1 reference

15 August 2017

Joost P H Drenth

series ordinal

4

1 reference

15 August 2017

2 June 2008

1 reference

15 August 2017

1 reference

15 August 2017

4

1 reference

15 August 2017

21

1 reference

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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

A stop codon mutation in SCN9A causes lack of pain sensation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

A case of inherited erythromelalgia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

An SCN9A channelopathy causes congenital inability to experience pain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Erythromelalgia: a case report and literature review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Erythermalgia: molecular basis for an inherited pain syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

Characterization of a familial case with primary erythromelalgia from Taiwan.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430949

5 September 2018

1 reference

12 December 2020

Familial erythromelalgia

1 reference

12 December 2020

Erythromelalgia--not so benign

1 reference

12 December 2020

Mutation hotspots of SCN9A in primary erythermalgia

1 reference

12 December 2020

Nav1.7, its mutations, and the syndromes that they cause

1 reference

12 December 2020

Identifiers

DOI

10.1186/1744-8069-4-21

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

18518989

1 reference