Characteristics of Adolescents Admitted with Acute Alcohol Intoxication: A Retrospective Multicentre Study in Antwerp, Belgium, in the Period 2015-2021.

Autor: van Roozendaal H; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium., Verhulst S; Department of Paediatrics, Antwerp University Hospital, 2650 Edegem, Belgium., Glazemakers I; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium.; University Centre for Child and Adolescent Psychiatry (ZNA-UKJA), 2020 Antwerp, Belgium., De Meulder F; Department of Paediatrics, GasthuisZusters Antwerpen (GZA), 2018 Antwerp, Belgium., Vander Auwera A; Department of Paediatrics, GasthuisZusters Antwerpen (GZA), 2018 Antwerp, Belgium., Bael A; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium.; Department of Paediatrics, Hospital Network Antwerp (ZNA), 2020 Antwerp, Belgium., Van Damme E; Department of Paediatrics, Hospital Network Antwerp (ZNA), 2020 Antwerp, Belgium., Vlemincx I; Department of Paediatrics, General Hospital (AZ) Monica, 2100 Antwerp, Belgium., De Dooy J; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium.; Department of Paediatrics, Antwerp University Hospital, 2650 Edegem, Belgium., van der Lely N; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium.; Department of Paediatrics, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Van Hal G; Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Wilrijk, Belgium.

Publikováno v: Children (Basel, Switzerland) [Children (Basel)] 2023 Aug 12; Vol. 10 (8). Date of Electronic Publication: 2023 Aug 12.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Autor: Sim JC; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Scerri T; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Fanjul-Fernández M; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Riseley JR; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Gillies G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Pope K; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., van Roozendaal H; VUMC School of Medical Sciences, Amsterdam, The Netherlands., Heng JI; The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia., Mandelstam SA; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; University of Melbourne, Department of Radiology, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., McGillivray G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., MacGregor D; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia., Kannan L; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Maixner W; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia., Harvey AS; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Amor DJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Delatycki MB; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.; Clinical Genetics, Austin Health, Melbourne, Australia., Crino PB; Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA., Bahlo M; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.

Publikováno v: Annals of neurology [Ann Neurol] 2016 Jan; Vol. 79 (1), pp. 132-7. Date of Electronic Publication: 2015 Dec 12.

From Alpha-Thalassemia Trait to NPRL3 -Related Epilepsy: A Genomic Diagnostic Odyssey.

Autor: Nabavi Nouri, Maryam, Alandijani, Lama, van Engelen, Kalene, Tole, Soumitra, Lalonde, Emilie, Balci, Tugce B.

Publikováno v: Genes; Jul2024, Vol. 15 Issue 7, p836, 11p

Human In Vitro Models of Epilepsy Using Embryonic and Induced Pluripotent Stem Cells.

Autor: Javaid, Muhammad Shahid¹ (AUTHOR), Tan, Tracie¹ (AUTHOR), Dvir, Naomi¹ (AUTHOR), Anderson, Alison¹ (AUTHOR), J. O'Brien, Terence¹ (AUTHOR), Kwan, Patrick¹ (AUTHOR), Antonic-Baker, Ana¹ (AUTHOR) ana.antonic-baker@monash.edu

Publikováno v: Cells (2073-4409). Dec2022, Vol. 11 Issue 24, p3957. 16p.

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.

Autor: Du, Shiyue, Zeng, Sheng, Song, Li, Ma, Hongying, Chen, Rui, Luo, Junyu, Wang, Xu, Ma, Tingbin, Xu, Xuan, Sun, Hao, Yi, Ping, Guo, Jifeng, Huang, Yaling, Liu, Mugen, Wang, Tao, Liao, Wei-Ping, Zhang, Luoying, Liu, Jing Yu, Tang, Beisha

Publikováno v: SCIENCE CHINA Life Sciences; Sep2023, Vol. 66 Issue 9, p2152-2166, 15p