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Autor
Aronica, Eleonora 1 Benova, Barbora 1 Borkowska, Julita 1 Curatolo, Paolo 1 Domańska-Pakieła, Dorota 1 Feucht, Martha 1 Hamieh, Lana 1 Hertzberg, Christoph 1 Hulshof, Hanna M 1 Jansen, Anna C 1 Jansen, Floor E 1 Janson, Stef 1 Jaworski, Jacek 1 Jozwiak, Sergiusz 1 Klonowska, Katarzyna 1 Kotulska, Katarzyna 1 Kozlowski, Piotr 1 Krsek, Pavel 1 Kuijf, Hugo 1 Kwiatkowski, David J 1
- Organizace
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Pracoviště
Affiliated Partner of ERN EpiCARE Vie... 1 Amsterdam UMC University of Amsterdam... 1 Child Neurology Unit Neuroscience and... 1 Child Neurology and Psychiatry Unit S... 1 Department of Child Neurology Brain C... 1 Department of Child Neurology Charité... 1 Department of Child Neurology Medical... 1 Department of Development and Regener... 1 Department of Medicine Brigham and Wo... 1 Department of Molecular Genetics Inst... 1 Department of Neurology and Epileptol... 1 Department of Pediatric Neurology Ref... 1 Department of Pediatrics and Adolesce... 1 Diagnose und Behandlungszentrum für K... 1 GenomeScan Leiden The Netherlands 1 Image Sciences Institute University M... 1 International Institute of Molecular ... 1 Motol University Hospital Charles Uni... 1 Neurosciences Unit Queensland Childre... 1 Pediatric Neurology Unit UZ Brussel N... 1
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Autor
Aronica, Eleonora 1 Benova, Barbora 1 Borkowska, Julita 1 Curatolo, Paolo 1 Domańska-Pakieła, Dorota 1 Feucht, Martha 1 Hamieh, Lana 1 Hertzberg, Christoph 1 Hulshof, Hanna M 1 Jansen, Anna C 1 Jansen, Floor E 1 Janson, Stef 1 Jaworski, Jacek 1 Jozwiak, Sergiusz 1 Klonowska, Katarzyna 1 Kotulska, Katarzyna 1 Kozlowski, Piotr 1 Krsek, Pavel 1 Kuijf, Hugo 1 Kwiatkowski, David J 1
- Organizace
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Pracoviště
Affiliated Partner of ERN EpiCARE Vie... 1 Amsterdam UMC University of Amsterdam... 1 Child Neurology Unit Neuroscience and... 1 Child Neurology and Psychiatry Unit S... 1 Department of Child Neurology Brain C... 1 Department of Child Neurology Charité... 1 Department of Child Neurology Medical... 1 Department of Development and Regener... 1 Department of Medicine Brigham and Wo... 1 Department of Molecular Genetics Inst... 1 Department of Neurology and Epileptol... 1 Department of Pediatric Neurology Ref... 1 Department of Pediatrics and Adolesce... 1 Diagnose und Behandlungszentrum für K... 1 GenomeScan Leiden The Netherlands 1 Image Sciences Institute University M... 1 International Institute of Molecular ... 1 Motol University Hospital Charles Uni... 1 Neurosciences Unit Queensland Childre... 1 Pediatric Neurology Unit UZ Brussel N... 1
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NLK
ProQuest Central
od 2011-01-01 do 2021-12-31
Health & Medicine (ProQuest)
od 2011-01-01 do 2021-12-31
Elsevier Open Access Journals
od 1998-11-01 do Před 1 rokem
ROAD: Directory of Open Access Scholarly Resources
od 1998
PubMed
32461669
DOI
10.1038/s41436-020-0823-4
Knihovny.cz E-zdroje
PURPOSE: To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. METHODS: Infants were enrolled at age <4 months, and subject to intensive clinical monitoring including electroencephalography (EEG), brain magnetic resonance imaging (MRI), and neuropsychological assessment. Targeted massively parallel sequencing (MPS), genome sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used for variant detection in TSC1/TSC2. RESULTS: Pathogenic variants in TSC1 or TSC2 were identified in 93 of 94 (99%) subjects, with 23 in TSC1 and 70 in TSC2. Nine (10%) subjects had mosaicism. Eight of 24 clinical features assessed at age 2 years were significantly less frequent in those with TSC1 versus TSC2 variants including cortical tubers, hypomelanotic macules, facial angiofibroma, renal cysts, drug-resistant epilepsy, developmental delay, subependymal giant cell astrocytoma, and median seizure-free survival. Additionally, quantitative brain MRI analysis showed a marked difference in tuber and subependymal nodule/giant cell astrocytoma volume for TSC1 versus TSC2. CONCLUSION: TSC2 pathogenic variants are associated with a more severe clinical phenotype than mosaic TSC2 or TSC1 variants in TSC infants. Early assessment of gene variant status and mosaicism might have benefit for clinical management in infants and young children with TSC.
- MeSH
- fenotyp MeSH
- hamartin genetika MeSH
- kojenec MeSH
- lidé MeSH
- mozaicismus MeSH
- mutace MeSH
- předškolní dítě MeSH
- tuberin genetika MeSH
- tuberózní skleróza * diagnostické zobrazování genetika MeSH
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- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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