Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder (Q36774708)

16 August 2017

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title

Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder (English)

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hypokalemic periodic paralysis

16 August 2017

main subject

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3

Damien Sternberg

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16 August 2017

Bertrand Fontaine

1

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16 August 2017

Emmanuel Fournier

series ordinal

2

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16 August 2017

Savine Vicart

series ordinal

4

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16 August 2017

Nacira Tabti

series ordinal

5

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16 August 2017

publication date

1 April 2007

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16 August 2017

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16 August 2017

volume

4

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16 August 2017

issue

2

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16 August 2017

page(s)

225-232

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The primary periodic paralyses: diagnosis, pathogenesis and treatment

16 August 2017

cites work

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Laboratory tests to determine the cause of hypokalemia and paralysis

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Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge

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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families

21 January 2018

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Severe prognosis in a large family with hypokalemic periodic paralysis.

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

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Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects

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Improvement of muscle strength in familial hypokalaemic periodic paralysis with acetazolamide

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

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

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A calcium channel mutation causing hypokalemic periodic paralysis

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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

21 January 2018

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A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women

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Correlating phenotype and genotype in the periodic paralyses

21 January 2018

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Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families

21 January 2018

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Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis

21 January 2018

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Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.

21 January 2018

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Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes

21 January 2018

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Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis

21 January 2018

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Pathomechanisms in channelopathies of skeletal muscle and brain

21 January 2018

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Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

21 January 2018

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Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation

21 January 2018

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

21 January 2018

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Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.

21 January 2018

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

21 January 2018

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

21 January 2018

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A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis

21 January 2018

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No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients.

21 January 2018

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

21 January 2018

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

21 January 2018

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Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis

21 January 2018

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Surface EMG and muscle fibre conduction during attacks of hypokalaemic periodic paralysis

21 January 2018

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In vivo and in vitro functional characterization of Andersen's syndrome mutations.

21 January 2018

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Acetazolamide Prophylaxis in Hypokalemic Periodic Paralysis

21 January 2018

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Hypokalemic periodic paralysis exacerbated by acetazolamide

21 January 2018

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SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide

21 January 2018

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Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?

21 January 2018

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The anesthetic myopathies and malignant hyperthermias.

21 January 2018

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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

21 January 2018

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21 January 2018

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A novel sodium channel mutation in a family with hypokalemic periodic paralysis

21 January 2018

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12 December 2020

Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis

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12 December 2020

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect

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12 December 2020

Evolution and content of vacuoles in primary hypokalemic periodic paralysis

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12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

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12 December 2020

The muscle fiber conduction velocity and power spectra in familial hypokalemic periodic paralysis

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12 December 2020

Spinal anesthesia for a patient with a calcium channel mutation causing hypokalemic periodic paralysis.

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12 December 2020

Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis

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12 December 2020

Electron microscopic observations in primary hypokalemic and thyrotoxic periodic paralyses

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12 December 2020

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK

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12 December 2020

Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis

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12 December 2020

Exercise test in muscle channelopathies and other muscle disorders

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12 December 2020

Mutation screening in Chinese hypokalemic periodic paralysis patients

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12 December 2020

Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness

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12 December 2020

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

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12 December 2020

Calcium-tension relationships of muscle fibers from patients with periodic paralysis

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12 December 2020

Acetazolamide opens the muscular K Ca 2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis

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12 December 2020

Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current

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12 December 2020

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

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12 December 2020

The exercise test in periodic paralysis

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12 December 2020

Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks

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12 December 2020

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis

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12 December 2020

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis

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12 December 2020

Calcium activation of electrically inexcitable muscle fibers in primary hypokalemic periodic paralysis

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12 December 2020

10.1016/J.NURT.2007.01.002

Identifiers

DOI

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Dimensions Publication ID

16 August 2017

1017366986

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