(Q36674682)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

congenital insensitivity to pain

17 February 2020

main subject

congenital disorder

0 references

0 references

author

Christopher J. Klein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Yanhong Wu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Dean H Kilfoyle

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Paola Sandroni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Mark D Davis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Ralitza H Gavrilova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Phillip A Low

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Peter J Dyck

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

language of work or name

English

0 references

publication date

5 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

17 February 2020

published in

1 reference

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17 February 2020

volume

84

1 reference

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17 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

386-391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

Chronic pain as a manifestation of potassium channel-complex autoimmunity

17 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Gain of function NaV1.7 mutations in idiopathic small fiber 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=3594382

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Role of TRP channels in 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=3594382

Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

A nonsense mutation in the SCN9A gene in congenital insensitivity to 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=3594382

Pain perception is altered by a nucleotide polymorphism in SCN9A

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet 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=3594382

Neurophysiologic and vascular studies in erythromelalgia: a retrospective analysis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary 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=3594382

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=3594382

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=3594382

GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Histopathologic findings in primary erythromelalgia are nonspecific: special studies show a decrease in small nerve fiber density

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships 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=3594382

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=3594382

Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

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=3594382

Erythromelalgia: vasculopathy, neuropathy, or both? A prospective study of vascular and neurophysiologic studies in 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=3594382

COMT val158met genotype affects mu-opioid neurotransmitter responses to a pain stressor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

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=3594382

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Quantitative sudomotor axon reflex test in normal and neuropathic subjects

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3594382

Channelopathies have many faces

20 September 2018

1 reference

12 December 2020

Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy

1 reference

12 December 2020

Variables influencing neuropathic endpoints: the Rochester Diabetic Neuropathy Study of Healthy Subjects

1 reference

12 December 2020

1 reference

12 December 2020

Indifference rather than insensitivity to pain

1 reference

12 December 2020

CNS energy metabolism as related to function

1 reference

12 December 2020

Painful research: identification of a small-molecule inhibitor that selectively targets Nav1.8 sodium channels

1 reference

12 December 2020

Thermoregulatory sweating abnormalities in diabetes mellitus

1 reference

12 December 2020

Detection of small-fiber neuropathy by sudomotor testing

1 reference

12 December 2020

Defining a treatable cause of erythromelalgia: acute adolescent autoimmune small-fiber axonopathy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP-2012-303719

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23129781%20AND%20SRC:MED&resulttype=core&format=json