Associated Papers
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Houdayer C et al.
Annals of Neurology, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
40139194 (PubMed )
Supplement: mmc2.pdf
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
Gain-of-function HCN2 variants in genetic epilepsy.
Li M et al.
Human Mutation, 2018
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