Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.M243R
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HCN1

NM_021072.4:p.M243R

Associated Papers

Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients.

Han Z et al.

Epilepsy Research, 2025

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 2024

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report.

Mckenzie CE et al.

Frontiers in Neurology, 2022

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

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C et al.

Brain : a Journal of Neurology, 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."