(Q35208537)

7 August 2017

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

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hypokalemic periodic paralysis

7 August 2017

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1 reference

Jurkat-Rott K

1

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7 August 2017

Mitrovic N

2

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7 August 2017

Hang C

3

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7 August 2017

Kouzmekine A

4

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7 August 2017

Iaizzo P

5

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7 August 2017

Herzog J

6

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7 August 2017

Lerche H

7

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7 August 2017

Nicole S

8

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7 August 2017

Vale-Santos J

9

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7 August 2017

Chauveau D

10

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7 August 2017

Fontaine B

11

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7 August 2017

Lehmann-Horn F

12

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7 August 2017

language of work or name

English

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publication date

1 August 2000

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Proceedings of the National Academy of Sciences of the United States of America

7 August 2017

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7 August 2017

97

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7 August 2017

17

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7 August 2017

9549-9554

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The voltage sensor in voltage-dependent ion channels

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Voltage-gated ion channels and hereditary disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Voltage sensor-trapping: enhanced activation of sodium channels by beta-scorpion toxin bound to the S3-S4 loop in domain II.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

A potassium channel mutation in neonatal human epilepsy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Sodium channel inactivation is altered by substitution of voltage sensor positive charges

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Impaired slow inactivation in mutant sodium channels

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

A calcium channel mutation causing hypokalemic periodic paralysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Interictal conduction slowing in muscle fibers in hypokalemic periodic paralysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Reconstruction of the action potential of frog sartorius muscle.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Insulin-mediated hypokalemia and paralysis in familial hypokalemic periodic paralysis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Analytical models of propagation in excitable cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16902

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

26 September 2018

1 reference

12 December 2020

Structural parts involved in activation and inactivation of the sodium channel

1 reference

12 December 2020

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

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

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

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12 December 2020

Differential diagnosis of periodic paralysis aided by in vitro myography

1 reference

12 December 2020

Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels

1 reference

12 December 2020

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

1 reference

12 December 2020

Evolution and content of vacuoles in primary hypokalemic periodic paralysis

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.97.17.9549

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7 August 2017

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7 August 2017

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