Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations (Q33157184)

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23 January 2020

title

Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations (English)

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23 January 2020

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23 January 2020

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23 January 2020

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23 January 2020

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23 January 2020

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23 January 2020

Hsuan-Ming Tsao

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23 January 2020

Chia-Hsiang Hsueh

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23 January 2020

Jiunn-Lee Lin

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23 January 2020

Yen-Bin Liu

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23 January 2020

publication date

20 February 2009

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Journal of Biomedical Science

23 January 2020

published in

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23 January 2020

volume

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23 January 2020

page(s)

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Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

23 January 2020

cites work

1 reference

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Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome

21 June 2018

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Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias

21 June 2018

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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

21 June 2018

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A novel mutation in the SCN5A gene is associated with Brugada syndrome.

21 June 2018

1 reference

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Sodium channel inactivation in heart: a novel role of the carboxy-terminal domain

21 June 2018

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Electrophysiological basis and genetics of Brugada syndrome

21 June 2018

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Inherited disorders of voltage-gated sodium channels

21 June 2018

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Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

21 June 2018

1 reference

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Structural effects of an LQT-3 mutation on heart Na+ channel gating

21 June 2018

1 reference

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The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain.

21 June 2018

1 reference

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A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653527

Genetic control of sodium channel function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653527

A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease

21 June 2018

1 reference

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Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome

21 June 2018

1 reference

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Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes

21 June 2018

1 reference

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The cardiac sodium channel: gating function and molecular pharmacology

21 June 2018

1 reference

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Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families

21 June 2018

1 reference

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A single Na(+) channel mutation causing both long-QT and Brugada syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653527

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 June 2018

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Modulation of Nav1.5 channel function by an alternatively spliced sequence in the DII/DIII linker region.

21 June 2018

1 reference

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Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction.

31 October 2018

1 reference

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Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2653527

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19272188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19272188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/19272188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1423-0127-16-23

1 reference

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Dimensions Publication ID

23 January 2020

0 references

1 reference

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23 January 2020

PubMed publication ID

19272188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19272188%20AND%20SRC:MED&resulttype=core&format=json