(Q39965463)

16 September 2017

title

Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation (English)

1 reference

paroxysmal extreme pain disorder

16 September 2017

main subject

1 reference

1 reference

Brian W Jarecki

1 reference

16 September 2017

Patrick L Sheets

series ordinal

1 reference

16 September 2017

James O Jackson

series ordinal

1 reference

16 September 2017

Theodore R Cummins

series ordinal

1 reference

16 September 2017

language of work or name

English

0 references

publication date

3 July 2008

1 reference

16 September 2017

published in

Journal of Physiology

1 reference

16 September 2017

volume

586

1 reference

16 September 2017

1 reference

16 September 2017

page(s)

4137-4153

1 reference

Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment

16 September 2017

cites work

1 reference

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Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy

30 August 2018

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Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation

30 August 2018

1 reference

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The roles of sodium channels in nociception: Implications for mechanisms of pain

30 August 2018

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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

30 August 2018

1 reference

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

30 August 2018

1 reference

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An SCN9A channelopathy causes congenital inability to experience pain

30 August 2018

1 reference

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Multiple sodium channels and their roles in electrogenesis within dorsal root ganglion neurons

30 August 2018

1 reference

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

30 August 2018

1 reference

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Voltage-gated sodium channels: action players with many faces

30 August 2018

1 reference

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

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Sodium channel mutations in epilepsy and other neurological disorders

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome

30 August 2018

1 reference

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

30 August 2018

1 reference

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Voltage sensor of Kv1.2: structural basis of electromechanical coupling

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Pain in primary erythromelalgia--a neuropathic component?

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Rectal, ocular, and submaxillary pain; a familial autonomic disorder related to proctalgia fugaz: report of a family

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Sodium-channel defects in benign familial neonatal-infantile seizures

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Molecular basis of an inherited epilepsy

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Persistent TTX-resistant Na+ current affects resting potential and response to depolarization in simulated spinal sensory neurons.

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Cloning, distribution and functional analysis of the type III sodium channel from human brain

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

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

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Interaction between the sodium channel inactivation linker and domain III S4-S5.

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Persistent sodium current in mammalian central neurons

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Impaired slow inactivation in mutant sodium channels

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Na+ channels must deactivate to recover from inactivation

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Sodium channel inactivation in the crayfish giant axon. Must channels open before inactivating?

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Some kinetic and steady-state properties of sodium channels after removal of inactivation

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Independence of the sodium and potassium conductance channels. A kinetic argument

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Inactivation of the sodium current in Myxicola giant axons. Evidence for coupling to the activation process

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Destruction of sodium conductance inactivation in squid axons perfused with pronase

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

A quantitative description of membrane current and its application to conduction and excitation in nerve. 1952.

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Selective modification of sodium channel gating in lobster axons by 2, 4, 6-trinitrophenol: Evidence for two inactivation mechanisms

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Inactivation of the sodium channel. II. Gating current experiments

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

Inactivation of the sodium channel. I. Sodium current experiments

30 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652197

A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

30 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18599537

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical characteristics and pathophysiology of erythromelalgia and erythermalgia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18599537

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1113/JPHYSIOL.2008.154906

1 reference

16 September 2017

0 references

1 reference