(Q35127070)

6 August 2017

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation (English)

1 reference

6 August 2017

1 reference

S Bendahhou

1

1 reference

6 August 2017

T R Cummins

2

1 reference

6 August 2017

A F Hahn

3

1 reference

6 August 2017

S Langlois

4

1 reference

6 August 2017

S G Waxman

5

1 reference

6 August 2017

L J Ptácek

6

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 August 2000

1 reference

Journal of Clinical Investigation

6 August 2017

1 reference

6 August 2017

106

1 reference

6 August 2017

3

1 reference

6 August 2017

431-438

1 reference

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Phenotype variation and newcomers in ion channel disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

A mutation in segment I-S6 alters slow inactivation of sodium channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

External pore residue mediates slow inactivation in mu 1 rat skeletal muscle sodium channels.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Impaired slow inactivation in mutant sodium channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Serine-1321-independent regulation of the mu 1 adult skeletal muscle Na+ channel by protein kinase C

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

A new technique for the assay of infectivity of human adenovirus 5 DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

The "megaprimer" method of site-directed mutagenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Structural determinants of slow inactivation in human cardiac and skeletal muscle sodium channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

Comparison between slow sodium channel inactivation in rat slow- and fast-twitch muscle.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314328

A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

27 September 2018

1 reference

12 December 2020

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree

1 reference

12 December 2020

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels

1 reference

12 December 2020

Slow sodium channel inactivation in rat fast-twitch muscle

1 reference

12 December 2020

Multiple domains contribute to the distinct inactivation properties of human heart and skeletal muscle Na+ channels

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI9654

1 reference

6 August 2017

1 reference

6 August 2017

1 reference