The primary periodic paralyses: diagnosis, pathogenesis and treatment (Q36272858)

13 August 2017

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title

The primary periodic paralyses: diagnosis, pathogenesis and treatment (English)

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13 August 2017

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5

M G Hanna

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13 August 2017

S L Venance

1

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13 August 2017

S C Cannon

2

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13 August 2017

D Fialho

3

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13 August 2017

B Fontaine

4

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13 August 2017

L J Ptacek

6

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13 August 2017

M Tristani-Firouzi

7

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13 August 2017

R Tawil

8

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13 August 2017

R C Griggs

9

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13 August 2017

CINCH investigators

10

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13 August 2017

language of work or name

English

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publication date

29 September 2005

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13 August 2017

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13 August 2017

129

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13 August 2017

8-17

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13 August 2017

Pt 1

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

13 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

An expanding view for the molecular basis of familial periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Andersen syndrome autosomal dominant in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Normokalemic periodic paralysis revisited: does it exist?

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Polymorphic ventricular tachycardia and KCNJ2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Impaired slow inactivation in mutant sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

A new oral therapy for long QT syndrome: long-term oral potassium improves repolarization in patients with HERG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

A calcium channel mutation causing hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Periodic paralysis: understanding channelopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

The nature of the electrophysiological disorder in adynamia episodica

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Correlating phenotype and genotype in the periodic paralyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Linkage of atypical myotonia congenita to a sodium channel locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Acetazolamide Prophylaxis in Hypokalemic Periodic Paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Adynamia episodica hereditaria: what causes the weakness?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Andersen's syndrome: A distinct periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Hypokalemic periodic paralysis exacerbated by acetazolamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

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/10.1093%2FBRAIN%2FAWH639

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWH639

1 reference

13 August 2017

1 reference