- The phenotypic spectrum of SCN8A encephalopathy2015 | 2. lékařská fakulta
- De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy2021 | 1. lékařská fakulta, 3. lékařská fakulta
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes2017 | 2. lékařská fakulta