Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.G131R
Back to variants list

HCN1

NM_021072.4:p.G131R

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

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

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

Marini C et al.

Brain : a Journal of Neurology, 2018

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."