(Q36597505)

15 August 2017

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome (English)

1 reference

15 August 2017

1 reference

Lia Crotti

6

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Peter J. Schwartz

object named as

Peter J Schwartz

17

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Elijah Behr

object named as

Elijah Behr

2

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Naoki Mochizuki

9

object named as

Naoki Mochizuki

1 reference

15 August 2017

19

Dan M Roden

1 reference

15 August 2017

Naomasa Makita

1

1 reference

15 August 2017

Wataru Shimizu

3

1 reference

15 August 2017

Minoru Horie

4

1 reference

15 August 2017

Akihiko Sunami

5

1 reference

15 August 2017

Eric Schulze-Bahr

7

1 reference

15 August 2017

Shigetomo Fukuhara

8

1 reference

15 August 2017

Takeru Makiyama

10

1 reference

15 August 2017

Hideki Itoh

11

1 reference

15 August 2017

Michael Christiansen

12

1 reference

15 August 2017

Pascal McKeown

13

1 reference

15 August 2017

Koji Miyamoto

14

1 reference

15 August 2017

Shiro Kamakura

15

1 reference

15 August 2017

Hiroyuki Tsutsui

16

1 reference

15 August 2017

Alfred L George

18

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 June 2008

1 reference

Journal of Clinical Investigation

15 August 2017

1 reference

15 August 2017

118

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15 August 2017

6

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15 August 2017

2219-2229

1 reference

The congenital long QT syndromes from genotype to phenotype: clinical implications

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

The cardiac sodium channel: gating function and molecular pharmacology

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

The Brugada syndrome: ionic basis and arrhythmia mechanisms

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

A revised view of cardiac sodium channel "blockade" in the long-QT syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Cardiac conduction defects associate with mutations in SCN5A

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Molecular mechanism for an inherited cardiac arrhythmia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Enhanced Na(+) channel intermediate inactivation in Brugada syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

The long QT syndrome. A review of recent molecular genetic and physiologic discoveries

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Preferential block of late sodium current in the LQT3 DeltaKPQ mutant by the class I(C) antiarrhythmic flecainide.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Lidocaine block of cardiac sodium channels

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Cardiac sodium channel dysfunction in sudden infant death syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

New mechanism contributing to drug-induced arrhythmia: rescue of a misprocessed LQT3 mutant

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Safety and efficacy of flecainide in subjects with Long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Unexpected mexiletine responses of a mutant cardiac Na+ channel implicate the selectivity filter as a structural determinant of antiarrhythmic drug access

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350431

Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel

20 September 2018

1 reference

12 December 2020

The Elusive Link Between LQT3 and Brugada Syndrome

1 reference

12 December 2020

ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome

1 reference

12 December 2020

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

12 December 2020

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

12 December 2020

Differential Expression of Ion Channel Transcripts in Atrial Muscle and Sinoatrial Node in Rabbit

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI34057

1 reference

15 August 2017

1 reference

15 August 2017

1 reference