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The genetic basis of Brugada syndrome: a mutation update

The genetic basis of Brugada syndrome: a mutation update

http://www.wikidata.org/entity/Q28252115

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Catheter ablation for ventricular tachyarrhythmia in patients with channelopathies Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Risk stratification in young patients with channelopathies.Recent developments in the management of patients at risk for sudden cardiac death.A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.The role of ion channelopathies in sudden cardiac death: implications for clinical practice.The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.Location, location, regulation: a novel role for β-spectrin in the heart.Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.Efficacy of the porcine species in biomedical research.Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.Impact of Mendelian inheritance in cardiovascular disease.Cardiac ion channelopathies and the sudden infant death syndrome Post-transcriptional regulation of cardiac sodium channel gene SCN5A expression and function by miR-192-5p The genetic component of Brugada syndrome Fibroblast growth factor homologous factors modulate cardiac calcium channels Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.Atrial fibrillation: the role of common and rare genetic variants.SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients Anesthetic management of patients with Brugada syndrome: a case series and literature review.Cardiac channelopathies and sudden infant death syndrome.Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.Fibroblast growth factor homologous factors in the heart: a potential locus for cardiac arrhythmias.Advances in targeting voltage-gated sodium channels with small molecules.Multilayered regulation of cardiac ion channels.Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention.Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy.Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology.Next generation sequencing in cardiovascular diseases.Autonomic and cardio-respiratory responses to exercise in Brugada Syndrome patients.Anaesthetic Management of a Patient with Brugada Syndrome.

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The genetic basis of Brugada syndrome: a mutation update

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The genetic basis of Brugada syndrome: a mutation update

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Michael Christiansen

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Poul Jørgensen

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Valerie A Corfield

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P2860

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

Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

"Brugada" syndrome: clinical data and suggested pathophysiological mechanism.

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

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

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

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

Phase 2 reentry as a mechanism of initiation of circus movement reentry in canine epicardium exposed to simulated ischemia.

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