Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.I380F
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HCN1

NM_021072.4:p.I380F

Associated Papers

Org 34167 rescues voltage dependence of mutant channels and normalizes hyperexcitability in HCN1 epilepsy.

Bleakley LE et al.

Epilepsia, 2025

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 2024

Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations.

Zhao P et al.

Epilepsia Open, 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

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

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability.

Xie C et al.

Frontiers in Molecular Neuroscience, 2022

Genetic variations associated with pharmacoresistant epilepsy (Review).

Cárdenas-Rodríguez N et al.

Molecular Medicine Reports, 2020

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Wang J et al.

Seizure, 2019

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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."