Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.V759I
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HCN4

NM_005477.3:p.V759I

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

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.

Blazekovic A et al.

Genes, 2022

36011376 (PubMed )
Supplement: genes-13-01466-s001.zip › genes-1800327-supplementary.pdf

The Contribution of HCN Channelopathies in Different Epileptic Syndromes, Mechanisms, Modulators, and Potential Treatment Targets: A Systematic Review.

Kessi M et al.

Frontiers in Molecular Neuroscience, 2022

Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking.

Erlenhardt N et al.

Pflugers Archiv : European Journal of Physiology, 2020

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3B

HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population.

Wu Q et al.

Journal of Forensic Sciences, 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

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

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Rueda M et al.

Frontiers in Cardiovascular Medicine, 2017

Molecular Autopsy for Sudden Unexpected Death.

Torkamani A et al.

Jama, 2016

Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.

Verkerk AO et al.

International Journal of Molecular Sciences, 2015

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Peeters U et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 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

Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

Evans A et al.

Human Pathology, 2013

HCN4 and arrhythmias: Insights into base mutations.

Fan W et al.

Mutation Research. Reviews in Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."