Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.R527Q
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HCN2

NM_001194.4:p.R527Q

Associated Papers

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Houdayer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.

Wu SZ et al.

Clinical and Experimental Pharmacology & Physiology, 2018

Gain-of-function HCN2 variants in genetic epilepsy.

Li M et al.

Human Mutation, 2018

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

HCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implications.

Reid CA et al.

British Journal of Pharmacology, 2012

Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.

DiFrancesco JC et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

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

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.

Tang B et al.

Neurobiology of Disease, 2008

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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."