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generalized epilepsy
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publication
Polygenic burden in focal and generalized epilepsies
2019 |
Second Faculty of Medicine
publication
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
2021 |
Second Faculty of Medicine
publication
Neurocognitive profile in patients with idiopathic generalized epilepsies: Differences between patients, their biological siblings, and healthy controls
2023 |
Second Faculty of Medicine
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
Second Faculty of Medicine
publication
Treatment of epileptic syndromes in children
2007 |
Second Faculty of Medicine
publication
Epileptic seizures and syndromes in children
2005 |
Second Faculty of Medicine
publication
The SCN1A gene analysis in patients with Febrile seizures
2006 |
Second Faculty of Medicine
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 |
Second Faculty of Medicine
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Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event
2019 |
Central Library of Charles University
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
Second Faculty of Medicine
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
Second Faculty of Medicine
publication
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
2012 |
Faculty of Medicine in Pilsen
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
2021 |
Second Faculty of Medicine
publication
Brain Areas Predisposing to the Stroke-Related Epilepsy Development
2023 |
Faculty of Medicine in Hradec Králové
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
Second Faculty of Medicine
publication
Trait impulsivity in Juvenile Myoclonic Epilepsy
2021 |
Second Faculty of Medicine
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Central Library of Charles University
publication
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 |
Second Faculty of Medicine
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
Second Faculty of Medicine
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
First Faculty of Medicine