Associated Papers
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.
Liatakis I et al.
American Journal of Cardiovascular Disease, 2021
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.
Giudicessi JR et al.
Circulation, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC et al.
Epilepsy Research, 2019
The genetic architecture of long QT syndrome: A critical reappraisal.
Giudicessi JR et al.
Trends in Cardiovascular Medicine, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor G et al.
Circulation. Cardiovascular Genetics, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
Christiansen SL et al.
European Journal of Human Genetics : Ejhg, 2016
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
The KCNE2 K⁺ channel regulatory subunit: Ubiquitous influence, complex pathobiology.
Abbott GW
Gene, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Kcne2 deletion creates a multisystem syndrome predisposing to sudden cardiac death.
Hu Z et al.
Circulation. Cardiovascular Genetics, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.
Eldstrom J et al.
Expert Reviews in Molecular Medicine, 2011
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Harkcom WT et al.
Expert Review of Cardiovascular Therapy, 2010
A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance.
Gordon E et al.
Cardiovascular Research, 2008
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
KCNE2 and the K (+) channel: the tail wagging the dog.
Abbott GW
Channels (austin, Tex.), 0