- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy2023 | 2. lékařská fakulta
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | 2. lékařská fakulta
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy2020 | Ústřední knihovna
- Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series2021 | 1. lékařská fakulta
- De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy2021 | 1. lékařská fakulta, 3. lékařská fakulta
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | 2. lékařská fakulta
- Genetic heterogeneity in infantile spasms2019 | 2. lékařská fakulta
- A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy2023 | 1. lékařská fakulta
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies2018 | 2. lékařská fakulta
- ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder2023 | 1. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Distinct gene-set burden patterns underlie common generalized and focal epilepsies2021 | 2. lékařská fakulta
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Ústřední knihovna
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood2022 | Publikace bez příslušnosti k fakultě
- Male patient with ALG13 associated congenital disorder of glycosylation2021 | 2. lékařská fakulta
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta