- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures2015 | Second Faculty of Medicine
- Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures2020 | Second Faculty of Medicine
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | Second Faculty of Medicine
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine