Associated Papers
The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data.
Verkerk AO et al.
Biomedicines, 2023
Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.
Wang H et al.
The Journal of Biological Chemistry, 2022
Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.
Piekutowska-Abramczuk D et al.
Genes, 2022
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.
Paszkowska A et al.
Genes, 2022
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Schultze-Berndt A et al.
Frontiers in Pediatrics, 2021
Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death.
Dong J et al.
Pacing and Clinical Electrophysiology : Pace, 2019
A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.
Hategan L et al.
International Journal of Cardiology, 2017
Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.
Dewar LJ et al.
Circulation. Cardiovascular Genetics, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.
Schweizer PA et al.
Journal of the American College of Cardiology, 2017
Reply: A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.
Arbustini E et al.
Journal of the American College of Cardiology, 2017
A Functional Assay for Sick Sinus Syndrome Genetic Variants.
Jou CJ et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017
Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.
Biel S et al.
Pflugers Archiv : European Journal of Physiology, 2016
Current understanding of the pathophysiological mechanisms responsible for inappropriate sinus tachycardia: role of the If "funny" current.
Baruscotti M et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2016
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
HCN4, Sinus Bradycardia and Atrial Fibrillation.
DiFrancesco D
Arrhythmia & Electrophysiology Review, 2015
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
Milano A et al.
Journal of the American College of Cardiology, 2014
Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current.
Verkerk AO et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2014
Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.
Tu E et al.
Brain Pathology (zurich, Switzerland), 2011
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.
Laish-Farkash A et al.
Journal of Cardiovascular Electrophysiology, 2010
HCN4 and arrhythmias: Insights into base mutations.
Fan W et al.
Mutation Research. Reviews in Mutation Research, 0