(Q41510546)

1 October 2017

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title

From mutation to myotonia in sodium channel disorders (English)

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1 October 2017

Cannon SC

1

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1 October 2017

publication date

1 June 1997

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1 October 2017

published in

Neuromuscular Disorders

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1 October 2017

volume

7

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1 October 2017

issue

4

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1 October 2017

page(s)

241-249

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Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

1 October 2017

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7 January 2021

Overexcited or inactive: ion channels in muscle disease

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7 January 2021

Molecular pathology of the skeletal muscle sodium channel

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7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

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7 January 2021

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

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7 January 2021

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

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Myotonia fluctuans. A third type of muscle sodium channel disease

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7 January 2021

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

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Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

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Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters

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Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

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

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

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Primary structure and functional expression of a mammalian skeletal muscle sodium channel

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Voltage-dependent gating of single sodium channels from mammalian neuroblastoma cells

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

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Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation

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

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

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

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Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Structure and function of voltage-gated ion channels

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7 January 2021

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

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7 January 2021

Inactivation of the sodium channel. II. Gating current experiments

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7 January 2021

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

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7 January 2021

Slow changes in currents through sodium channels in frog muscle membrane

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7 January 2021

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

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7 January 2021

Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance

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7 January 2021

Impaired slow inactivation in mutant sodium channels

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7 January 2021

THE AFTER-POTENTIAL THAT FOLLOWS TRAINS OF IMPULSES IN FROG MUSCLE FIBERS.

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7 January 2021

On the repetitive discharge in myotonic muscle fibres

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7 January 2021

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

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7 January 2021

Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis

1 reference

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7 January 2021

10.1016/S0960-8966(97)00430-6

Identifiers

DOI

1 reference

1 October 2017

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