Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis (Q28295660)

genotype-phenotype correlation

Europe PubMed Central

title

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis (English)

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main subject

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hyperkalemic periodic paralysis

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Karin Jurkat-Rott

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author name string

Frank Lehmann-Horn

series ordinal

2

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language of work or name

English

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publication date

April 2007

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published in

Neurotherapeutics

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volume

4

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issue

2

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page(s)

216-24

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cites work

Adynamia episodica hereditaria: what causes the weakness?

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Non-dystrophic myotonias and periodic paralyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Normokalemic periodic paralysis revisited: does it exist?

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Altered gating and conductance of Na+ channels in hyperkalemic periodic paralysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

21 January 2018

Anaesthesia and myotonia

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Complications of anaesthesia in neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

The equine periodic paralysis Na+ channel mutation alters molecular transitions between the open and inactivated states

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Muscle channelopathies and critical points in functional and genetic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.02.001

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

21 January 2018

1 reference

12 December 2020

Dyskalemic periodic paralysis and myotonia.

1 reference

12 December 2020

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

Carbonic anhydrase inhibitors are specific openers of skeletal muscle BK channel of K+-deficient rats.

1 reference

12 December 2020

Membrane defects in paramyotonia congenita (Eulenburg)

1 reference

12 December 2020

Periodic paralysis with cardiac arrhythmia

1 reference

12 December 2020

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

1 reference

12 December 2020

Voltage-gated ion channels and hereditary disease

1 reference

12 December 2020

Hyperkalemic periodic paralysis in horses

1 reference

12 December 2020

Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

1 reference

12 December 2020

Periodic muscle weakness, normokalemia, and tubular aggregates

1 reference

12 December 2020

Progressive myopathy in hyperkalemic periodic paralysis

1 reference

12 December 2020

Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis

1 reference

12 December 2020

Hyperkalemic periodic paralysis and cardiac arrhythmia

1 reference

12 December 2020

Loss of Na+ channel inactivation by anemone toxin (ATX II) mimics the myotonic state in hyperkalaemic periodic paralysis.

1 reference

12 December 2020