Publikace
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies2018 | 2. lékařská fakulta
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects2017 | 2. lékařská fakulta
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients2016 | 2. lékařská fakulta
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | 2. lékařská fakulta
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | 2. lékařská fakulta
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies2014 | 2. lékařská fakulta
- Neepileptické paroxysmy u dětí - naše zkušenosti s video/EEG monitorováním2002 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
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