(Q36004026)

11 August 2017

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro (English)

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11 August 2017

paramyotonia congenita

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1 reference

N Yang

1

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11 August 2017

S Ji

2

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11 August 2017

M Zhou

3

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11 August 2017

L J Ptácek

4

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11 August 2017

R L Barchi

5

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11 August 2017

R Horn

6

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11 August 2017

A L George

7

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11 August 2017

language of work or name

English

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publication date

1 December 1994

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

11 August 2017

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11 August 2017

91

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11 August 2017

26

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11 August 2017

12785-12789

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Voltage-dependent regulation of modal gating in the rat SkM1 sodium channel expressed in Xenopus oocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Membrane changes in cells from myotonia patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Inhibition of inactivation of single sodium channels by a site-directed antibody

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Cellular and molecular biology of voltage-gated sodium channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Functional expression of sodium channel mutations identified in families with periodic paralysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

Putative receptor for the cytoplasmic inactivation gate in the Shaker K+ channel

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45524

The myotonic disorders and the periodic paralyses

11 July 2018

1 reference

12 December 2020

Membrane defects in paramyotonia congenita (Eulenburg)

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

Identifiers

DOI

10.1073/PNAS.91.26.12785

1 reference

11 August 2017

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1 reference

11 August 2017

PubMed publication ID

7809121

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