Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.I397L
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HCN1

NM_021072.4:p.I397L

Associated Papers

Roles of funny HCN.

Kodirov SA

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

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

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

Merseburg A et al.

Elife, 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

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

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

Marini C et al.

Brain : a Journal of Neurology, 2018

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D et al.

Orphanet Journal of Rare Diseases, 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."