- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | Second Faculty of Medicine
- Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies. part II2012 | Second Faculty of Medicine
- Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part I2012 | Second Faculty of Medicine
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | Second Faculty of Medicine
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients2016 | Second Faculty of Medicine
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects2017 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy2023 | Second Faculty of Medicine
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy2014 | Second Faculty of Medicine
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies2014 | Second Faculty of Medicine
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy2020 | Central Library of Charles University
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood2022 | Publication without faculty affiliation
- Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data2017 | Second Faculty of Medicine
- Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series2021 | First Faculty of Medicine
- De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy2021 | First Faculty of Medicine, Third Faculty of Medicine
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | Second Faculty of Medicine
- Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy2016 | First Faculty of Medicine, Central Library of Charles University
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | Second Faculty of Medicine
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome2013 | Second Faculty of Medicine
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | Second Faculty of Medicine
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | Second Faculty of Medicine
- Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?2019 | First Faculty of Medicine
- Generalized quasiperiodic epileptiform activity in sleep is associated with cognitive impairment in children with drug-resistant focal lesional epilepsy2019 | Second Faculty of Medicine, Central Library of Charles University
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | Second Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- Treatment of epileptic syndromes in children2007 | Second Faculty of Medicine
- Epileptic seizures and syndromes in children2005 | Second Faculty of Medicine