Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Autor: Aughey GN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Cali E; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Maroofian R; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK., Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa 19120, Pakistan., Abdulllah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan., Rahman F; Department of Developmental-Behavioral Pediatrics, The Children's Hospital, University of Child Health Sciences (UCHS-CH), Lahore 54600, Pakistan., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Shafique A; School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan., Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, NG5 1PB, UK., Roze E; Sorbonne University, INSERM, CNRS, Paris Brain Institute, Salpêtrière Hospital/AP-HP, Paris 75013, France., Aguennouz M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Ghizlane Z; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco., Saadi SM; Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad 61010, Pakistan., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Cheema HA; Department of Paediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore  Pakistan., Anjum MN; Department of Paediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore  Pakistan., Morel G; Service de Génétique Médicale, CHU de La Réunion, site Felix Guyon, France., Robin S; Service de Génétique Médicale, CHU de La Réunion, site Felix Guyon, France., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK., Altunoglu U; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey., Kraus V; Department of Pediatrics and Social Pediatrics, TUM School of Medicine, ZSE partner site Munich, Munich, Germany., Shoukier M; Department of Molecular Genetics, Prenatal Medicine Munich, Munich, Germany., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Flemming K; Department of Pediatric Rehabilitation, University Hospital Northern Norway., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Rhouda H; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Rossi M; Genetics Department, Hospices Civils de Lyon, Lyon, France; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Murtaza BN; Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan., Ur Rehman M; Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan., Lord J; Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK., Giacopuzzi E; Technopole, Viale Rita Levi-Montalcini 1, Milan, Italy., Hayat A; Department of MLT, Abbottabad University of Science and Technology KP, Pakistan., Siraj M; Department of Zoology, Abbottabad University of Science and Technology KP, Pakistan., Badv RS; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Iran., Seo GH; 3billion inc, Seoul, South Korea., Beetz C; Centogene GmbH, Rostock, Germany., Kayserili H; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey., Krioulie Y; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Naz S; School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan., Maqbool S; Department of Developmental-Behavioral Pediatrics, The Children's Hospital, University of Child Health Sciences (UCHS-CH), Lahore 54600, Pakistan., Chandler K; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Kershaw C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wright T; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA., Taylor JC; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK., Efthymiou S; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Faculty of Life Sciences, Health Services Academy, Park Road, Islamabad 44000, Pakistan., Severino M; UO Neuroradiologia, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Jepson JEC; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Dec 18. Date of Electronic Publication: 2024 Dec 18.