Associated Papers
A rare HCN4 variant combined with sick sinus syndrome, left ventricular noncompaction, and complex congenital heart disease.
Zhang F et al.
Channels (austin, Tex.), 2025
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
Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?
Brunet-Garcia L et al.
Jacc. Case Reports, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction, and thoracic aortic aneurysm.
Ponińska J et al.
Polish Archives of Internal Medicine, 2021
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
van Wijngaarden AL et al.
Journal of Medical Genetics, 2020
Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.
Marian AJ et al.
Cardiovascular Research, 2020
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome.
Wacker-Gussmann A et al.
Heartrhythm Case Reports, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?
Hanania HL et al.
Circulation. Genomic and Precision Medicine, 2019
HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population.
Wu Q et al.
Journal of Forensic Sciences, 2019
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.
Richard P et al.
Clinical Genetics, 2019
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
Phenotypic Spectrum of HCN4 Mutations: A Clinical Case.
Servatius H et al.
Circulation. Genomic and Precision Medicine, 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.
Ishikawa T et al.
Heart Rhythm, 2017
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.
Dong X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Inherited bradyarrhythmia: A diverse genetic background.
Ishikawa T et al.
Journal of Arrhythmia, 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
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 2015
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
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 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
The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.
Schweizer PA et al.
Journal of the American College of Cardiology, 2014
Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype.
Towbin JA
Journal of the American College of Cardiology, 2014
Sinoatrial nodal disease presenting with tachy-bradycardia syndrome in a fetus of anti-SSA/SSB-positive mother.
Karmegaraj B
Annals of Pediatric Cardiology, 0
HCN4 and arrhythmias: Insights into base mutations.
Fan W et al.
Mutation Research. Reviews in Mutation Research, 0