(Q40673389)

22 September 2017

title

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V. (English)

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22 September 2017

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paramyotonia congenita

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4

Reinhard Dengler

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22 September 2017

Bahram Mohammadi

1

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22 September 2017

Nenad Mitrovic

series ordinal

2

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22 September 2017

Frank Lehmann-Horn

series ordinal

3

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22 September 2017

Johannes Bufler

series ordinal

5

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22 September 2017

language of work or name

English

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publication date

24 January 2003

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22 September 2017

number of pages

8

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inferred from page(s)

published in

Journal of Physiology

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22 September 2017

volume

547

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22 September 2017

issue

Pt 3

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22 September 2017

page(s)

691-698

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Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

22 September 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Voltage-gated ion channels and hereditary disease

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Overexcited or inactive: ion channels in muscle disease

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

Altered gating and conductance of Na+ channels in hyperkalemic periodic paralysis.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2342724

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

29 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Membrane defects in paramyotonia congenita (Eulenburg)

1 reference

12 December 2020

Hodgkin-Huxley parameters of the sodium channels in human myoballs

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

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

1 reference

12 December 2020

10.1113/JPHYSIOL.2002.033928

Identifiers

DOI

1 reference

22 September 2017

0 references

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