- KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome2017 | Second Faculty of Medicine
- 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
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- De novo variants in neurodevelopmental disorders with epilepsy2018 | Second Faculty of Medicine
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes2017 | Second Faculty of Medicine