(Q36487377)

English

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

electrophysiology

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based on heuristic

inferred from title

1

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31 December 2019

author name string

Sulayman D Dib-Hajj

2

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31 December 2019

Lynda Tyrrell

3

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Europe PubMed Central

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31 December 2019

Stephen G Waxman

4

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Europe PubMed Central

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31 December 2019

publication date

2 January 2008

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Europe PubMed Central

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31 December 2019

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

4

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Europe PubMed Central

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31 December 2019

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

A stop codon mutation in SCN9A causes lack of pain sensation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

A case of inherited erythromelalgia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

An SCN9A channelopathy causes congenital inability to experience pain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Na channel inactivation from open and closed states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Pathomechanisms in channelopathies of skeletal muscle and brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Erythermalgia: molecular basis for an inherited pain syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Sodium channel mutations in epilepsy and other neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Inherited disorders of voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

A novel persistent tetrodotoxin-resistant sodium current in SNS-null and wild-type small primary sensory neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

NaN, a novel voltage-gated Na channel, is expressed preferentially in peripheral sensory neurons and down-regulated after axotomy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

28 June 2018

Long QT syndrome: from channels to cardiac arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

28 June 2018

Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

28 June 2018

Characterization of a familial case with primary erythromelalgia from Taiwan.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

21 September 2018

Spinal sensory neurons express multiple sodium channel alpha-subunit mRNAs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2262064

21 September 2018

Hereditary erythermalgia and acquired erythromelalgia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18171466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel alpha subunit protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/18171466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Painful channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/18171466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conserved motifs in voltage-sensing and pore-forming modules of voltage-gated ion channel proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/18171466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1744-8069-4-1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18171466%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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