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Hledat publikace relevantní k dotazu "generalized epilepsy"
generalized epilepsy
Publikace
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Publikace
Studium
publication
Polygenic burden in focal and generalized epilepsies
2019 |
2. lékařská fakulta
publication
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
2021 |
2. lékařská fakulta
publication
Neurocognitive profile in patients with idiopathic generalized epilepsies: Differences between patients, their biological siblings, and healthy controls
2023 |
2. lékařská fakulta
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
2. lékařská fakulta
publication
Léčba epileptických syndromů u dětí
2007 |
2. lékařská fakulta
publication
Epileptické záchvaty a syndromy u dětí
2005 |
2. lékařská fakulta
publication
Analýza genu SCN1A u pacientů s febrilními záchvaty
2006 |
2. lékařská fakulta
publication
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 |
2. lékařská fakulta
publication
Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event
2019 |
Ústřední knihovna
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
2. lékařská fakulta
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
2. lékařská fakulta
publication
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
2012 |
Lékařská fakulta v Plzni
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
2. lékařská fakulta
publication
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
2021 |
2. lékařská fakulta
publication
Brain Areas Predisposing to the Stroke-Related Epilepsy Development
2023 |
Lékařská fakulta v Hradci Králové
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
2. lékařská fakulta
publication
Trait impulsivity in Juvenile Myoclonic Epilepsy
2021 |
2. lékařská fakulta
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Ústřední knihovna
publication
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 |
2. lékařská fakulta
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
2. lékařská fakulta
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
1. lékařská fakulta