Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
Bleakley LE et al.
Journal of Neurochemistry, 2024
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 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
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
Genetic characteristics of non-familial epilepsy.
Kang KW et al.
Peerj, 2019
31875159 (PubMed )
Supplement: peerj-07-8278-s002.xlsx › Sheet1
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C et al.
Nature Genetics, 2014
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