Mechanisms underlying a life‐threatening skeletal muscle Na channel disorder (Q39552491)

13 September 2017

title

Mechanisms underlying a life-threatening skeletal muscle Na channel disorder (English)

1 reference

13 September 2017

Mechanisms underlying a life‐threatening skeletal muscle Na channel disorder (English)

1 reference

https://api.crossref.org/works/10.1113/JPHYSIOL.2011.207977

30 November 2024

1

Dina Simkin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21521764

30 November 2024

2

Isabelle Léna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21521764

30 November 2024

5

Damien Sternberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21521764

30 November 2024

author name string

Pierre Landrieu

3

1 reference

13 September 2017

Laurence Lion-François

4

1 reference

13 September 2017

Bertrand Fontaine

6

1 reference

13 September 2017

Saïd Bendahhou

7

1 reference

13 September 2017

language of work or name

English

0 references

publication date

26 April 2011

1 reference

full work available at URL

13 September 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145928

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21521764

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113/jphysiol.2011.207977

30 November 2024

1 reference

https://api.crossref.org/works/10.1113/JPHYSIOL.2011.207977

https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/jphysiol.2011.207977

30 November 2024

1 reference

https://api.crossref.org/works/10.1113/JPHYSIOL.2011.207977

30 November 2024

published in

Journal of Physiology

1 reference

13 September 2017

volume

589

1 reference

13 September 2017

issue

Pt 13

1 reference

13 September 2017

page(s)

3115-3124

1 reference

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

13 September 2017

cites work

1 reference

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Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

15 September 2018

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Sodium channelopathies of skeletal muscle result from gain or loss of function

15 September 2018

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

15 September 2018

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A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

15 September 2018

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

15 September 2018

1 reference

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Myasthenic syndrome caused by mutation of the SCN4A sodium channel

15 September 2018

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Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation

15 September 2018

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Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

15 September 2018

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

15 September 2018

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A new mutation in a family with cold-aggravated myotonia disrupts Na( ) channel inactivation

15 September 2018

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Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

15 September 2018

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A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg

15 September 2018

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Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia

15 September 2018

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

15 September 2018

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

15 September 2018

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

15 September 2018

1 reference

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

15 September 2018

1 reference

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Paramyotonia congenita: the R1448P Na channel mutation in adult human skeletal muscle

15 September 2018

1 reference

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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

15 September 2018

1 reference

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Na channels must deactivate to recover from inactivation

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

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

15 September 2018

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Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany

15 September 2018

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

15 September 2018

1 reference

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

15 September 2018

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Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

15 September 2018

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A new technique for the assay of infectivity of human adenovirus 5 DNA

15 September 2018

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Immunoaffinity isolation of Na channels from rat skeletal muscle. Analysis of subunits

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

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

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

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

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

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

15 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3145928

Non-dystrophic myotonias and periodic paralyses

15 September 2018

1 reference

https://api.crossref.org/works/10.1113/JPHYSIOL.2011.207977

Myotonia fluctuans. A third type of muscle sodium channel disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21521764

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21521764

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21521764

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

release_kblzp4rtsng6jjhxrl5ewyut4e

13 September 2017

Fatcat ID

0 references

PMC publication ID

3145928

0 references

1 reference