Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans (Q24651364)

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

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instance of

scholarly article

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title

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

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main subject

paramyotonia congenita

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based on heuristic

inferred from title

author name string

S Bendahhou

series ordinal

1

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T R Cummins

series ordinal

2

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H Kwiecinski

series ordinal

3

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S G Waxman

series ordinal

4

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L J Ptácek

series ordinal

5

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language of work or name

English

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publication date

15 July 1999

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published in

Journal of Physiology

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volume

518 ( Pt 2)

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issue

2

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page(s)

337-44

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cites work

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

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7 April 2017

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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7 April 2017

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus

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

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

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7 April 2017

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

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7 April 2017

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

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

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7 April 2017

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

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7 April 2017

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

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The "megaprimer" method of site-directed mutagenesis

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7 April 2017

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

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28 September 2017

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

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28 September 2017

Mechanism of modulation of the voltage-gated skeletal and cardiac muscle sodium channels by fatty acids

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28 September 2017

Impaired slow inactivation in mutant sodium channels

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PubMed Central

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28 September 2017

Serine-1321-independent regulation of the mu 1 adult skeletal muscle Na+ channel by protein kinase C

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28 September 2017

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

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28 September 2017

In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4

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28 September 2017

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

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28 September 2017

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

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PubMed Central

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28 September 2017

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

1 reference

stated in

PubMed Central

reference URL

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28 September 2017

Phenotype variation and newcomers in ion channel disorders

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30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

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30 May 2018

Na+ channels must deactivate to recover from inactivation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1469-7793.1999.0337P.X

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1469-7793.1999.0337P.X

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21 January 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10381583

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10381583

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/J.1469-7793.1999.0337P.X

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PMC publication ID

2269438

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PubMed publication ID

10381583

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ResearchGate publication ID

12916779

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