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Hledat publikace relevantní k dotazu "Epileptic encephalopathy"
Epileptic encephalopathy
Publikace
Předměty
Osoby
Publikace
Studium
publication
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
2021 |
2. lékařská fakulta
publication
Genetické testování u idiopatických epileptických syndromů a epileptických encefalopatií - díl II.
2012 |
2. lékařská fakulta
publication
Genetické testování u idiopatických epileptických syndromů a epileptických encefalopatií - díl I.
2012 |
2. lékařská fakulta
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
2. lékařská fakulta
publication
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 |
2. lékařská fakulta
publication
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
2016 |
2. lékařská fakulta
publication
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
2017 |
2. lékařská fakulta
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
2. lékařská fakulta
publication
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy
2023 |
2. lékařská fakulta
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
2. lékařská fakulta
publication
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 |
2. lékařská fakulta
publication
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
2015 |
2. lékařská fakulta
publication
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
2014 |
2. lékařská fakulta
publication
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
2020 |
Ústřední knihovna
publication
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
2022 |
Publikace bez příslušnosti k fakultě
publication
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
2017 |
2. lékařská fakulta
publication
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series
2021 |
1. lékařská fakulta
publication
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
2021 |
1. lékařská fakulta, 3. lékařská fakulta
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
2. lékařská fakulta
publication
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
2016 |
1. lékařská fakulta, Ústřední knihovna
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
2. lékařská fakulta
publication
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
2013 |
2. lékařská fakulta
publication
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
2015 |
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
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
2019 |
1. lékařská fakulta
publication
Generalized quasiperiodic epileptiform activity in sleep is associated with cognitive impairment in children with drug-resistant focal lesional epilepsy
2019 |
2. lékařská fakulta, Ústřední knihovna
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 |
2. lékařská fakulta
publication
Klinická, biochemická a molekulární studie sedmi polských pacientů s deficitem adenylosukcinátlyázy
2008 |
1. lékařská fakulta
publication
Léčba epileptických syndromů u dětí
2007 |
2. lékařská fakulta
publication
Epileptické záchvaty a syndromy u dětí
2005 |
2. lékařská fakulta