Publications
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | Second Faculty of Medicine
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | Second Faculty of Medicine
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | Second Faculty of Medicine, First Faculty of Medicine
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects2017 | Second Faculty of Medicine
- Structural alterations of the language connectome in children with specific language impairment2015 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- The phenotypic spectrum of SCN8A encephalopathy2015 | Second Faculty of Medicine
- Abnormal nocturnal events in children2015 | Second Faculty of Medicine
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