(Q47858857)

6 February 2018

title

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I. (English)

1 reference

6 February 2018

author name string

D S Green

series ordinal

1

1 reference

6 February 2018

A L George

series ordinal

2

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6 February 2018

S C Cannon

series ordinal

3

1 reference

6 February 2018

language of work or name

English

0 references

publication date

1 August 1998

1 reference

6 February 2018

published in

Journal of Physiology

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6 February 2018

volume

510 ( Pt 3)

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6 February 2018

page(s)

685-694

1 reference

6 February 2018

A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism

cites work

1 reference

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From mutation to myotonia in sodium channel disorders

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

26 August 2018

1 reference

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A mutation in segment I-S6 alters slow inactivation of sodium channels

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Impaired slow inactivation in mutant sodium channels

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Functional expression of sodium channel mutations identified in families with periodic paralysis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

26 August 2018

1 reference

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A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2231077

Reconstruction of the action potential of frog sartorius muscle.

26 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1469-7793.1998.685BJ.X

A reinterpretation of mammalian sodium channel gating based on single channel recording

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1469-7793.1998.685BJ.X

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

21 January 2018

1 reference

12 December 2020

Myotonia fluctuans. A third type of muscle sodium channel disease

1 reference

12 December 2020

Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)

1 reference

12 December 2020

Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel

1 reference

12 December 2020

On the repetitive discharge in myotonic muscle fibres

1 reference

12 December 2020

10.1111/J.1469-7793.1998.685BJ.X

Identifiers

DOI

1 reference

6 February 2018

0 references

1 reference

6 February 2018