Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Org 34167 rescues voltage dependence of mutant channels and normalizes hyperexcitability in HCN1 epilepsy.
Bleakley LE et al.
Epilepsia, 2025
Roles of funny HCN.
Kodirov SA
Comparative Biochemistry and Physiology. Toxicology & Pharmacology : Cbp, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Houdayer C et al.
Annals of Neurology, 2025
Hyperpolarization-activated cyclic nucleotide-gated channels and epilepsy: genetics, circuits, and treatments.
Cai MS et al.
Frontiers in Neurology, 2025
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
Bleakley LE et al.
Journal of Neurochemistry, 2024
Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants.
Kim ED et al.
Nature, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
Kobayashi Y et al.
Human Genome Variation, 2023
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
Zhao D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Efficacy of antiseizure medication in a mouse model of HCN1 developmental and epileptic encephalopathy.
Bleakley LE et al.
Epilepsia, 2023
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
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
Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal Excitability.
Xie C et al.
Frontiers in Molecular Neuroscience, 2022
Biophysical analysis of an HCN1 epilepsy variant suggests a critical role for S5 helix Met-305 in voltage sensor to pore domain coupling.
Hung A et al.
Progress in Biophysics and Molecular Biology, 2021
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Bleakley LE et al.
Brain : a Journal of Neurology, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C et al.
Brain : a Journal of Neurology, 2018