Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.S399P
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HCN1

NM_021072.4:p.S399P

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

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Kobayashi Y et al.

Human Genome Variation, 2023

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy.

McKenzie CE et al.

Brain Communications, 2023

Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy.

Merseburg A et al.

Elife, 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

35845605 (PubMed )
Supplement: Table_2.xlsx › Sheet1

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."