Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.L157V
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HCN1

NM_021072.4:p.L157V

Associated Papers

Roles of funny HCN.

Kodirov SA

Comparative Biochemistry and Physiology. Toxicology & Pharmacology : Cbp, 2025

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 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

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability.

Xie C et al.

Frontiers in Molecular Neuroscience, 2022

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Sun H et al.

Life (basel, Switzerland), 2021

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 novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.

Bonzanni M et al.

Neurobiology of Disease, 2018

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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."