(Q24544294)

2

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author name string

Magali Bouhours

1

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Jean Claude Willer

4

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Bertrand Fontaine

5

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Nacira Tabti

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

6

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language of work or name

English

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publication date

1 June 2005

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published in

Journal of Physiology

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volume

565

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issue

Pt 2

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page(s)

415-27

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Periodic paralysis: understanding channelopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and a peptide blocker

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Sodium channel defects in myotonia and periodic paralysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Sodium channel gating in clonal pituitary cells. The inactivation step is not voltage dependent

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Inactivation of the sodium channel. I. Sodium current experiments

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464511

Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

30 May 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states.

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

Na+ channels must deactivate to recover from inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

Solution structures of the cytoplasmic linkers between segments S4 and S5 (S4-S5) in domains III and IV of human brain sodium channels in SDS micelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

The familial periodic paralyses and nondystrophic myotonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2004.081018

Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels

21 January 2018

1 reference

12 December 2020

Slow sodium channel inactivation in rat fast-twitch muscle

1 reference

12 December 2020

Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability

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

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

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

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

1 reference

12 December 2020