(Q36670607)

15 August 2017

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title

Paroxysmal muscle weakness: the familial periodic paralyses (English)

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15 August 2017

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1

Karin Jurkat-Rott

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author name string

Frank Lehmann-Horn

series ordinal

2

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15 August 2017

30 November 2006

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15 August 2017

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15 August 2017

253

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15 August 2017

11

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15 August 2017

1391-1398

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https://scigraph.springernature.com/pub.10.1007/s00415-006-0339-0

15 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0339-0

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/10.1007%2FS00415-006-0339-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0339-0

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/10.1007%2FS00415-006-0339-0

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Voltage-gated ion channels and hereditary disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)

1 reference

12 December 2020

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

1 reference

12 December 2020

The primary periodic paralyses: diagnosis, pathogenesis and treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Andersen's syndrome: A distinct periodic paralysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

12 December 2020

10.1007/S00415-006-0339-0

Identifiers

DOI

1 reference

15 August 2017

1 reference

PubMed ID

17139526