Publications
- KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome2017 | Second Faculty of Medicine
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | Second Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | 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
- In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2022 | Second Faculty of Medicine, First Faculty of Medicine
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
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