Associated Papers
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Houdayer C et al.
Annals of Neurology, 2025
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
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
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Gain-of-function HCN2 variants in genetic epilepsy.
Li M et al.
Human Mutation, 2018
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Campostrini G et al.
Frontiers in Molecular Neuroscience, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) Channels in Epilepsy.
Brennan GP et al.
Cold Spring Harbor Perspectives in Medicine, 2016
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
DiFrancesco JC et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011