(Q33888835)

29 July 2017

title

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia (English)

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29 July 2017

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Jadon Webb

1

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29 July 2017

Stephen C Cannon

series ordinal

2

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29 July 2017

language of work or name

English

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publication date

26 September 2007

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29 July 2017

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29 July 2017

volume

70

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29 July 2017

issue

10

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29 July 2017

page(s)

755-761

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Pathomechanisms in channelopathies of skeletal muscle and brain

29 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Voltage-gated ion channels and hereditary disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Impaired slow inactivation in mutant sodium channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Functional expression and properties of the human skeletal muscle sodium channel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4094148

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis

5 July 2018

1 reference

12 December 2020

Visual identification of individual transfected cells for electrophysiology using antibody-coated beads

1 reference

12 December 2020

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

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12 December 2020

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis

1 reference

12 December 2020

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

10.1212/01.WNL.0000265397.70057.D8

Identifiers

DOI

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29 July 2017

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29 July 2017

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