(Q24675134)

English

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

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scholarly article

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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 (English)

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Calcium voltage-gated channel auxiliary subunit alpha2delta 1

1 reference

GOA release 2020-03-11

Calcium voltage-gated channel auxiliary subunit beta 2

1 reference

GOA release 2020-03-11

Calcium voltage-gated channel subunit alpha1 C

1 reference

GOA release 2020-03-11

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

1 reference

GOA release 2020-03-11

Charles Antzelevitch

1

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10

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Michel Haïssaguerre

20

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object named as

Ryan Pfeiffer

8

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object named as

Antonio Oliva

9

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Martin Borggrefe

22

object named as

Martin Borggrefe

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21

object named as

Rainer Schimpf

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Christian Wolpert

23

object named as

Christian Wolpert

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18

object named as

Atul Bhatia

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Guido D Pollevick

2

object named as

Guido D Pollevick

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Jonathan M Cordeiro

3

object named as

Jonathan M Cordeiro

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4

object named as

Oscar Casis

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Alejandra Guerchicoff

7

object named as

Alejandra Guerchicoff

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Elena Burashnikov

13

object named as

Elena Burashnikov

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author name string

Michael C Sanguinetti

5

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Yoshiyasu Aizawa

6

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Philip Gelber

11

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Elias P Bonaros

12

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Yuesheng Wu

14

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John D Sargent

15

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Stefan Schickel

16

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Ralf Oberheiden

17

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Li-Fern Hsu

19

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language of work or name

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publication date

30 January 2007

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115

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4

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442-9

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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

The homeodomain transcription factor Irx5 establishes the mouse cardiac ventricular repolarization gradient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

7 April 2017

Short QT syndrome: clinical findings and diagnostic-therapeutic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Acquired forms of the Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Efficacy of quinidine in high-risk patients with Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Short QT syndrome: pharmacological treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Sudden death associated with short-QT syndrome linked to mutations in HERG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Proposed diagnostic criteria for the Brugada syndrome: consensus report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Task Force on Sudden Cardiac Death, European Society of Cardiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

The I-II loop of the Ca2+ channel alpha1 subunit contains an endoplasmic reticulum retention signal antagonized by the beta subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 September 2017

Role of sodium and calcium channel block in unmasking the Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

30 May 2018

Autonomic nervous system influences on QT interval in normal subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

30 May 2018

Sex differences in the evolution of the electrocardiographic QT interval with age

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

30 May 2018

Differential role of the alpha1C subunit tails in regulation of the Cav1.2 channel by membrane potential, beta subunits, and Ca2+ ions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 November 2018

Amplified transmural dispersion of repolarization as the basis for arrhythmogenesis in a canine ventricular-wedge model of short-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 November 2018

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 November 2018

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1952683

28 November 2018

Molecular genetics of arrhythmias and cardiovascular conditions associated with arrhythmias

1 reference

https://pubmed.ncbi.nlm.nih.gov/17224476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/17224476

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low birth weight and increased sympathetic activity

1 reference

https://api.crossref.org/works/10.1161%2FCIRCULATIONAHA.106.668392

7 January 2021

based on heuristic

inferred from DOI database lookup

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