Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy (Q33590751)

28 July 2017

title

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy (English)

1 reference

28 July 2017

Young-Chul Choi

4

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author name string

Sang-Chan Lee

1

1 reference

28 July 2017

Hyang-Sook Kim

2

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28 July 2017

Yeong-Eun Park

3

1 reference

28 July 2017

Kyu-Hyun Park

5

1 reference

28 July 2017

Dae-Seong Kim

6

1 reference

28 July 2017

publication date

31 December 2009

1 reference

Journal of clinical neurology

28 July 2017

published in

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28 July 2017

volume

5

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28 July 2017

issue

4

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28 July 2017

page(s)

186-191

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Creative Commons Attribution-NonCommercial 3.0 Unported

28 July 2017

copyright license

start time

1 January 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

1 reference

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Myasthenic syndrome caused by mutation of the SCN4A sodium channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Human Gene Mutation Database (HGMD): 2003 update

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

A new mutation in a family with cold-aggravated myotonia disrupts Na( ) channel inactivation

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Familial cramp due to potassium-aggravated myotonia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806541

A novel muscle sodium channel mutation causes painful congenital myotonia

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20076800

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20076800

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20076800

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3988/JCN.2009.5.4.186

1 reference

28 July 2017

1 reference

28 July 2017

1 reference