Associated Papers
Org 34167 rescues voltage dependence of mutant channels and normalizes hyperexcitability in HCN1 epilepsy.
Bleakley LE et al.
Epilepsia, 2025
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
Bleakley LE et al.
Journal of Neurochemistry, 2024
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
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Lucariello M et al.
Human Genetics, 2016
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