Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes (Q33565907)

28 July 2017

1 reference

title

Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes (English)

1 reference

28 July 2017

1 reference

Shubhayan Sanatani

0 references

Thomas M Roston

1 reference

28 July 2017

Taylor Cunningham

1 reference

28 July 2017

Anna Lehman

1 reference

28 July 2017

Zachary W Laksman

1 reference

28 July 2017

Andrew D Krahn

1 reference

28 July 2017

publication date

16 March 2017

1 reference

Clinical Medicine Insights. Cardiology

28 July 2017

published in

1 reference

28 July 2017

1 reference

28 July 2017

page(s)

1179546817698134

1 reference

Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.

28 July 2017

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Hyperphosphorylation of RyRs underlies triggered activity in transgenic rabbit model of LQT2 syndrome

21 June 2018

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Cardiac CaM Kinase II genes δ and γ contribute to adverse remodeling but redundantly inhibit calcineurin-induced myocardial hypertrophy

21 June 2018

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21 June 2018

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A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation

21 June 2018

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KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia

21 June 2018

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Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction

21 June 2018

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Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

21 June 2018

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Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome

21 June 2018

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New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

21 June 2018

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HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.

21 June 2018

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21 June 2018

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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

21 June 2018

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KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

21 June 2018

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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

21 June 2018

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R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy

21 June 2018

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A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype

21 June 2018

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KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

21 June 2018

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Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation

21 June 2018

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A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report

21 June 2018

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The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study.

21 June 2018

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

21 June 2018

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Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis

21 June 2018

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Ryanodine calcium channel: a novel channelopathy for seizures

21 June 2018

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SCN5A Rare Variants in Familial Dilated Cardiomyopathy Decrease Peak Sodium Current Depending on the Common Polymorphism H558R and Common Splice Variant Q1077del

21 June 2018

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Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

21 June 2018

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Mutation-specific risk in two genetic forms of type 3 long QT syndrome

21 June 2018

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Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes

21 June 2018

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The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

21 June 2018

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Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

21 June 2018

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Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

21 June 2018

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Mechanisms of voltage-gated ion channel regulation: from gene expression to localization

21 June 2018

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Compartmentalized regulations of ion channels in the heart

21 June 2018

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The long QT syndrome family of cardiac ion channelopathies: a HuGE review

21 June 2018

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The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

21 June 2018

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Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

21 June 2018

1 reference

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SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

21 June 2018

1 reference

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

21 June 2018

1 reference

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Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

21 June 2018

1 reference

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Pacemaker channel dysfunction in a patient with sinus node disease

21 June 2018

1 reference

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Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system

21 June 2018

1 reference

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KCNQ1 gain-of-function mutation in familial atrial fibrillation

21 June 2018

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SCN5A is expressed in human jejunal circular smooth muscle cells

21 June 2018

1 reference

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392026

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392026

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392026

Cardiac conduction defects associate with mutations in SCN5A

21 June 2018

1 reference

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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 June 2018

1 reference

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Inner ear defects induced by null mutation of the isk gene

21 June 2018

1 reference

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Developmental changes in ionic channel activity in the embryonic murine heart

21 June 2018

1 reference

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A new form of long QT syndrome associated with syndactyly

21 June 2018

1 reference

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Long QT syndrome associated with syndactyly identified in females

21 June 2018

1 reference

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SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

21 June 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.

21 January 2018

1 reference

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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

21 January 2018

1 reference

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HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

21 January 2018

1 reference

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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

21 January 2018

1 reference

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Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Characterization of the epicardial substrate for catheter ablation of Brugada syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Isolated non-compaction of the ventricular myocardium associated with long QT syndrome: a report of 2 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Sodium current in human intestinal interstitial cells of Cajal

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392026

Report of the NASPE policy conference on arrhythmias and the athlete

31 October 2018

1 reference

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Suppression-of-function mutations in the cardiac ryanodine receptor: Emerging evidence for a novel arrhythmia syndrome?

31 October 2018

1 reference

https://api.crossref.org/works/10.1177%2F1179546817698134

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium

21 January 2018

1 reference

12 December 2020

Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations

1 reference

12 December 2020

Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen-Tawil syndrome

1 reference

12 December 2020

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

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12 December 2020

Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation

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12 December 2020

Arrhythmogenic right ventricular cardiomyopathy

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12 December 2020

Brugada Syndrome Phenotype Elimination by Epicardial Substrate Ablation

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12 December 2020

Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood

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12 December 2020

Arrhythmias and dilated cardiomyopathy common pathogenetic pathways?

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12 December 2020

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q

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12 December 2020

Identifiers

DOI

10.1177/1179546817698134

1 reference

28 July 2017

1 reference

28 July 2017

1 reference