Associated Papers
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
Modular architecture of K+ channels: the functional plasticity of the pore module.
Rauh O et al.
Embo Reports, 2025
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
Bleakley LE et al.
Journal of Neurochemistry, 2024
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
Kobayashi Y et al.
Human Genome Variation, 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
Novel treatments in epilepsy guided by genetic diagnosis.
Marini C et al.
British Journal of Clinical Pharmacology, 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
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Bleakley LE et al.
Brain : a Journal of Neurology, 2021
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C et al.
Brain : a Journal of Neurology, 2018
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