Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.R550C
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HCN4

NM_005477.3:p.R550C

Associated Papers

Aberrant HCN4 channel expression: Impacts on neuronal excitability and implications for epilepsy pathogenesis.

Spyrou J et al.

British Journal of Pharmacology, 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

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Al Anazi AH et al.

Human Genomics, 2022

36539902 (PubMed )
Supplement: 40246_2022_444_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants

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

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

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

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.

Campostrini G et al.

Frontiers in Molecular Neuroscience, 2018

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."