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epileptic encephalopathy
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MUDr. Katalin Štěrbová
Academic staff at Second Faculty of Medicine
74 publications
Publications
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
Second Faculty of Medicine
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
Genetic heterogeneity in infantile spasms
2019 |
Second Faculty of Medicine
publication
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
2018 |
Second Faculty of Medicine
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
Second Faculty of Medicine
publication
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
2018 |
Second Faculty of Medicine
publication
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
2017 |
Second Faculty of Medicine
publication
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
2017 |
Second Faculty of Medicine
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
Second Faculty of Medicine
publication
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome
2017 |
Second Faculty of Medicine
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