Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans (Q24310498)

voltage-gated sodium channel activity involved in Purkinje myocyte action potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Heinz Erich Wichmann

14

0 references

Jean-Jacques Schott

6

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Denis Escande

10

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Solena Le Scouarnec

3

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Stefan Kääb

13

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Sophie Demolombe

7

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Arne Pfeufer

12

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Arthur Wilde

17

Arthur A M Wilde

0 references

Ans C. P. Wiesfeld

11

Ans C P Wiesfeld

0 references

Dan Roden

18

Dan M Roden

0 references

Connie R Bezzina

19

Connie R Bezzina

0 references

Vincent Probst

8

Vincent Probst

0 references

Can Hasdemir

15

Can Hasdemir

0 references

Tamara T Koopmann

2

Tamara T Koopmann

0 references

Christiana R Ingram

5

Christiana R Ingram

0 references

Yoshifusa Aizawa

16

Yoshifusa Aizawa

0 references

Sophie Demolombe

7

Sophie Demolombe

0 references

author name string

Hiroshi Watanabe

1

0 references

Tao Yang

4

0 references

Frédéric Anselme

Journal of Clinical Investigation

9

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language of work or name

English

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publication date

June 2008

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published in

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volume

118

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page(s)

2260-8

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issue

6

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cites work

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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

19 March 2017

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Molecular cloning and functional expression of the human sodium channel β1B subunit, a novel splicing variant of the β1 subunit

19 March 2017

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The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart

19 March 2017

1 reference

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Cardiac conduction defects associate with mutations in SCN5A

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

19 March 2017

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

19 March 2017

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Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD

19 March 2017

1 reference

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Presenilin/gamma-secretase-mediated cleavage of the voltage-gated sodium channel beta2-subunit regulates cell adhesion and migration

19 March 2017

1 reference

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Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture

19 March 2017

1 reference

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

19 March 2017

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Sodium channel beta subunits: anything but auxiliary

19 March 2017

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A sodium-channel mutation causes isolated cardiac conduction disease

19 March 2017

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

19 March 2017

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19 March 2017

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Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes

19 March 2017

1 reference

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BACE1 modulates filopodia-like protrusions induced by sodium channel beta4 subunit.

19 March 2017

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BACE1 regulates voltage-gated sodium channels and neuronal activity

27 September 2017

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27 September 2017

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Mechanisms of disease: current understanding and future challenges in Brugada syndrome

27 September 2017

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KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

27 September 2017

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Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

beta Subunits of voltage-gated sodium channels are novel substrates of beta-site amyloid precursor protein-cleaving enzyme (BACE1) and gamma-secretase

27 September 2017

1 reference

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Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins.

27 September 2017

1 reference

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Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

27 September 2017

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Modulation of Na(v)1.5 by beta1-- and beta3-subunit co-expression in mammalian cells

27 September 2017

1 reference

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The sialic acid component of the beta1 subunit modulates voltage-gated sodium channel function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

The implications of genetic mutations in the sodium channel gene (SCN5A).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Genetic control of sodium channel function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

The human heart and rat brain IIA Na+ channels interact with different molecular regions of the beta1 subunit

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Proposed diagnostic criteria for the Brugada syndrome: consensus report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Cloning, localization, and functional expression of sodium channel beta1A subunits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Functional association of the beta 1 subunit with human cardiac (hH1) and rat skeletal muscle (mu 1) sodium channel alpha subunits expressed in Xenopus oocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Modulation of Na+ channel inactivation by the beta 1 subunit: a deletion analysis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Cardiac arrhythmias in focal epilepsy: a prospective long-term study.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

The extracellular domain of the beta1 subunit is both necessary and sufficient for beta1-like modulation of sodium channel gating.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Modulation of cardiac Na+ channel expression in Xenopus oocytes by beta 1 subunits.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373423

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18464934

12 December 2020

inferred from PubMed ID database lookup

Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18464934

12 December 2020

inferred from PubMed ID database lookup

Low penetrance in the long-QT syndrome: clinical impact

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18464934

12 December 2020

inferred from PubMed ID database lookup

The sodium channel -subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart

1 reference

Crossref

https://api.crossref.org/works/10.1172%2FJCI33891

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1172/JCI33891

1 reference

1469277

1469277

1 reference

1 reference

1 reference