Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.S264C
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HCN1

NM_021072.4:p.S264C

Associated Papers

Structural basis for hyperpolarization-dependent opening of human HCN1 channel.

Burtscher V et al.

Nature Communications, 2024

Structural Basis for Hyperpolarization-dependent Opening of the Human HCN1 Channel.

Burtscher V et al.

Biorxiv : the Preprint Server for Biology, 2023

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

The Voltage-Dependent Deactivation of the KvAP Channel Involves the Breakage of Its S4 Helix.

Bignucolo O et al.

Frontiers in Molecular Biosciences, 2020

Voltage Sensor Movements during Hyperpolarization in the HCN Channel.

Lee CH et al.

Cell, 2019

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

Marini C et al.

Brain : a Journal of Neurology, 2018

30351409 (PubMed )
Supplement: awy263_suppl_data_1.xlsx › Sup_Table_1
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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."