(Q47752223)

5 February 2018

review article

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title

The familial periodic paralyses and nondystrophic myotonias (English)

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5 February 2018

author name string

Ptácek L

series ordinal

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5 February 2018

language of work or name

English

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publication date

1 July 1998

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5 February 2018

American Journal of Medicine

published in

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5 February 2018

volume

105

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5 February 2018

issue

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5 February 2018

page(s)

58-70

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5 February 2018

Genetics and Physiology of the Myotonic Muscle Disorders

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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A novel SCN4A mutation causing myotonia aggravated by cold and potassium

7 January 2021

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7 January 2021

The periodic paralyses

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Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

7 January 2021

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Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia

7 January 2021

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

7 January 2021

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Acetazolamide-responsive myotonia congenita

7 January 2021

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Hypokalemic periodic paralysis exacerbated by acetazolamide

7 January 2021

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Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

7 January 2021

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Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?

7 January 2021

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Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

7 January 2021

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Autosomal dominant episodic ataxia: a heterogeneous syndrome

7 January 2021

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

7 January 2021

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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

7 January 2021

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Hereditary paroxysmal ataxia: Response to acetazolamide

7 January 2021

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Identification of an intracellular peptide segment involved in sodium channel inactivation

7 January 2021

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Structural parts involved in activation and inactivation of the sodium channel

7 January 2021

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Changes in sodium channel gating produced by point mutations in a cytoplasmic linker

7 January 2021

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Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling

7 January 2021

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Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA.

7 January 2021

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Induction of calcium currents by the expression of the alpha 1-subunit of the dihydropyridine receptor from skeletal muscle

7 January 2021

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A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells

7 January 2021

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

7 January 2021

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Biophysical and molecular mechanisms of Shaker potassium channel inactivation

7 January 2021

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Inactivation of muscle chloride channel by transposon insertion in myotonic mice

7 January 2021

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Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes

7 January 2021

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A chloride channel widely expressed in epithelial and non-epithelial cells

7 January 2021

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Single chloride channels from Torpedo electroplax. Activation by protons

7 January 2021

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Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA

7 January 2021

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

7 January 2021

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

7 January 2021

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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

7 January 2021

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Membrane defects in paramyotonia congenita (Eulenburg)

7 January 2021

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Linkage of atypical myotonia congenita to a sodium channel locus

7 January 2021

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

7 January 2021

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Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding

7 January 2021

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Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters

7 January 2021

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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

7 January 2021

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A calcium channel mutation causing hypokalemic periodic paralysis

7 January 2021

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The myotonic mouse mutant ADR: electrophysiology of the muscle fiber

7 January 2021

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The skeletal muscle chloride channel in dominant and recessive human myotonia

7 January 2021

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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

7 January 2021

1 reference

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Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

7 January 2021

1 reference

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Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

7 January 2021

1 reference

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A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

7 January 2021

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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

7 January 2021

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Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

7 January 2021

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Myotonia levior is a chloride channel disorder.

7 January 2021

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A puzzling case of periodic paralysis

7 January 2021

1 reference

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Dissociation of glucose and potassium arterial-venous differences across the forearm by acetazolamide. A possible relationship to acetazolamide's beneficial effect in hypokalemic periodic paralysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2898%2900123-5

10.1016/S0002-9343(98)00123-5

7 January 2021

Identifiers

DOI

1 reference

5 February 2018

1 reference

5 February 2018