Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia (Q22009453)

GOA release 2020-03-11

sodium ion transport

1 reference

GOA release 2020-03-11

D W Wang

1

D W

Wang

1 reference

7 February 2023

D VanDeCarr

2

D

VanDeCarr

1 reference

7 February 2023

P C Ruben

3

P C

Ruben

1 reference

7 February 2023

A L George

4

A L Jr

George

1 reference

7 February 2023

P B Bennett

5

P B

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

Bennett

1 reference

7 February 2023

language of work or name

English

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publication date

9 April 1999

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published in

FEBS Letters

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volume

448

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issue

2-3

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page(s)

231-4

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

From mutation to myotonia in sodium channel disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Comparison of heterologously expressed human cardiac and skeletal muscle sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Distinct local anesthetic affinities in Na+ channel subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Pharmacological targeting of long QT mutant sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

A novel muscle sodium channel mutation causes painful congenital myotonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900338-5