Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

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第一作者： Marketa,Wayhelova

第一单位： Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.

作者： Marketa,Wayhelova ^[1] ; Michal,Ryzí ^[2] ; Jan,Oppelt ^[3] ; Eva,Hladilkova ^[4] ; Vladimira,Vallova ^[2] ; Lenka,Krskova ^[1] ; Marcela,Vilemova ^[2] ; Hana,Polackova ^[5] ; Renata,Gaillyova ^[2] ; Petr,Kuglik ^[1]

作者单位： Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. ^[1] Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic. ^[2] Clinic of Children's Neurology, University Hospital Brno, Brno, Czech Republic. ^[3] CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic. ^[4] Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic. ^[5] Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. kugl@sci.muni.cz. ^[6] Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic. kugl@sci.muni.cz. ^[7]

关键词 Epilepsy IQSEC2 gene Neurodevelopmental disorders Pathogenic sequence variant Targeted NGS