A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation (Q24544294)

2

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author name string

Magali Bouhours

1

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Jean Claude Willer

4

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Bertrand Fontaine

5

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Nacira Tabti

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

6

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language of work or name

English

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publication date

1 June 2005

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published in

Journal of Physiology

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volume

565

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issue

Pt 2

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page(s)

415-27

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cites work

1 reference

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

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

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

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Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

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

24 March 2017

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

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

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

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Periodic paralysis: understanding channelopathies

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

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

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Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita

27 September 2017

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Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel

27 September 2017

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Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line

27 September 2017

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Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

27 September 2017

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

27 September 2017

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Interaction between the sodium channel inactivation linker and domain III S4-S5.

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

27 September 2017

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Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and a peptide blocker

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

27 September 2017

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A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation

27 September 2017

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Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating

30 May 2018

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

30 May 2018

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

30 May 2018

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Sodium channel gating in clonal pituitary cells. The inactivation step is not voltage dependent

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Inactivation of the sodium channel. I. Sodium current experiments

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Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states.

21 January 2018

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Na+ channels must deactivate to recover from inactivation.

21 January 2018

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Solution structures of the cytoplasmic linkers between segments S4 and S5 (S4-S5) in domains III and IV of human brain sodium channels in SDS micelles

21 January 2018

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Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

21 January 2018

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The familial periodic paralyses and nondystrophic myotonias

21 January 2018

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

21 January 2018

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12 December 2020

Slow sodium channel inactivation in rat fast-twitch muscle

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Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability

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Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)

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12 December 2020

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel

1 reference

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

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12 December 2020