Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.D401H
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HCN1

NM_021072.4:p.D401H

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

Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants.

Kim ED et al.

Nature, 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

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 2015

De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Nava C et al.

Nature Genetics, 2014

HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.

Poduri A

Epilepsy Currents, 0

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