Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.G391S
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HCN1

NM_021072.4:p.G391S

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

HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients.

Yang Z et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

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

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.

Bleakley LE et al.

Brain : a Journal of Neurology, 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

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Jang SS et al.

Frontiers in Neurology, 2019

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."