Genotype- and phenotype-guided management of congenital long QT syndrome.
about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonSodium channel β subunits: emerging targets in channelopathiesIdentification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.Monogenec Arrhythmic Syndromes: From Molecular and Genetic Aspects to Bedside.Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Genetic analysis, in silico prediction, and family segregation in long QT syndrome.Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencingEnhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.Early somatic mosaicism is a rare cause of long-QT syndrome.Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.Congenital Long QT syndrome and torsade de pointes.Molecular Pathophysiology of Congenital Long QT Syndrome.Evaluation of Prolonged QT Interval: Structural Heart Disease Mimicking Long QT Syndrome.Sudden infant death syndrome, sleep, and seizures.Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.Familial long QT syndrome and late development of dilated cardiomyopathy in a child with a KCNQ1 mutation: A case report.Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.Strain Echocardiography and LQTS Subtypes: Mechanical Alterations in an Electrical Disorder.Ventricular fibrillation after elective surgery in an adolescent with long QT syndrome.Drug-Mediated Shortening of Action Potentials in LQTS2 Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.Mechanisms and models of cardiac sodium channel inactivation.Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men?A Potential Diagnostic Approach for Foetal Long-QT Syndrome, Developed and Validated in Children
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P2860
Genotype- and phenotype-guided management of congenital long QT syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genotype- and phenotype-guided management of congenital long QT syndrome.
@en
Genotype- and phenotype-guided management of congenital long QT syndrome.
@nl
type
label
Genotype- and phenotype-guided management of congenital long QT syndrome.
@en
Genotype- and phenotype-guided management of congenital long QT syndrome.
@nl
prefLabel
Genotype- and phenotype-guided management of congenital long QT syndrome.
@en
Genotype- and phenotype-guided management of congenital long QT syndrome.
@nl
P2860
P1476
Genotype- and phenotype-guided management of congenital long QT syndrome.
@en
P2093
John R Giudicessi
Michael J Ackerman
P2860
P304
P356
10.1016/J.CPCARDIOL.2013.08.001
P577
2013-10-01T00:00:00Z