Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.S126L
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HCN2

NM_001194.4:p.S126L

Associated Papers

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Houdayer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

DiFrancesco JC et al.

Epilepsia, 2023

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

Mutants of the Zebrafish K+ Channel Hcn2b Exhibit Epileptic-like Behaviors.

Rodríguez-Ortiz R et al.

International Journal of Molecular Sciences, 2021

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

Effects of HCN2 Mutations on Dendritic Excitability and Synaptic Plasticity: A Computational Study.

Thomas M et al.

Neuroscience, 2019

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

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.

Bonzanni M et al.

Neurobiology of Disease, 2018

The genetics and molecular biology of fever-associated seizures or epilepsy.

Deng H et al.

Expert Reviews in Molecular Medicine, 2018

Gain-of-function HCN2 variants in genetic epilepsy.

Li M et al.

Human Mutation, 2018

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.

Nakamura Y et al.

Plos One, 2013

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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."