Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, vol. 98, pp. 932–950
Abstract
OBJECTIVE: Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early-onset neurodevelopmental disorder with extensive multisystem involvement. Here, we aimed to delineate the extended, age-dependent EPG5-related disease spectrum. METHODS: We investigated clinical, radiological, and molecular features from the largest cohort of EPG5-related patients identified to date, complemented by experimental investigation of cellular and animal models of EPG5 defects. RESULTS: Through worldwide collaboration, we identified 211 patients, 97 of them previously unpublished, with recessive EPG5 variants. The phenotypic spectrum ranged from antenatally lethal presentations to milder isolated neurodevelopmental disorders. A novel Epg5 knock-in mouse model of a recurrent EPG5 missense variant featured motor impairments and defective autophagy in brain areas particularly relevant for the neurological disorders in milder presentations. Novel age-dependent neurodegenerative manifestations in our cohort included adolescent-onset parkinsonism and dystonia with cognitive decline, and myoclonus. Radiological features suggested an emerging continuum with brain iron accumulation disorders. Patient fibroblasts showed defects in PINK1-Parkin-dependent mitophagic clearance and α-synuclein overexpression, indicating a cellular basis for the observed neurodegenerative phenotypes. In Caenorhabditis elegans, EPG5 knockdown caused motor impairments, defective mitophagic clearance, and changes in mitochondrial respiration comparable to observations in C. elegans knockdown of parkinsonism-related genes. INTERPRETATION: Our findings illustrate a lifetime neurological disease continuum associated with pathogenic EPG5 variants, linking neurodevelopmental and neurodegenerative disorders through the common denominator of defective autophagy. ANN NEUROL 2025;98:932-950.
Authors 96
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University of Cologne · King's College London · Guy's and St Thomas' NHS Foundation Trust · Evelina London Children's Healthcare · University Hospital Cologne · Max Planck Institute for Biology of Ageing
Affiliation as printed
Department of Neurology, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Department of Pediatric Neurology Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust London UK
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging‐associated Diseases Cologne Germany
Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM) King's College London London UK
Department of Pediatric Neurology Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust London UK
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany
Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK
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Affiliation as printed
Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
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Affiliation as printed
UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology University College London London UK
UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK
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UCL Queen Square Institute of Neurology · University College London
Affiliation as printed
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
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Affiliation as printed
Vici Syndrome Foundation, Inc Silver Spring Maryland USA
Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA
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Affiliation as printed
Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM) King's College London London UK
Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK
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Affiliation as printed
Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
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Affiliation as printed
Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK
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Affiliation as printed
UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology University College London London UK
UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK
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University of Cologne · University Hospital Cologne · Max Planck Institute for Biology of Ageing
Affiliation as printed
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging‐associated Diseases Cologne Germany
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany
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University of Cologne · University Hospital Cologne · Max Planck Institute for Biology of Ageing
Affiliation as printed
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging‐associated Diseases Cologne Germany
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany
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Max Planck Institute for Biology of Ageing
Affiliation as printed
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging‐associated Diseases Cologne Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany
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Shahid Chamran University of Ahvaz · UCL Queen Square Institute of Neurology · University College London
Affiliation as printed
Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK
Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran
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Affiliation as printed
Department of Radiology Boston Children's Hospital Boston MA USA
Department of Radiology, Boston Children's Hospital, Boston, MA, USA
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Guy's Hospital · St Thomas' Hospital · Guy's and St Thomas' NHS Foundation Trust
Affiliation as printed
Department of Radiology Guy's and Saint Thomas' Hospitals NHS Trust London UK
Department of Radiology, Guy's and Saint Thomas' Hospitals NHS Trust, London, UK
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University of Cologne · King's College London · Guy's and St Thomas' NHS Foundation Trust · Evelina London Children's Healthcare · University Hospital Cologne · Max Planck Institute for Biology of Ageing
Affiliation as printed
Department of Neurology, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Department of Pediatric Neurology Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust London UK
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany
Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging‐associated Diseases Cologne Germany
Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM) King's College London London UK
Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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Shahid Beheshti University · Shahid Beheshti University of Medical Sciences
Affiliation as printed
Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran
Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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University Health Network · University of Toronto · Krembil Brain Institute
Affiliation as printed
Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine University of Toronto Toronto ON Canada
Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine, University of Toronto, Toronto, ON, Canada
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National Research Centre · Weill Cornell Medical College in Qatar · Weill Cornell Medicine
Affiliation as printed
Department of Neurology Weill Cornell Medicine Qatar, Education City Doha Qatar
Medical Molecular Genetics Institute Human Genetics and Genome Research, National Research Centre Dokki Egypt
Department of Neurology, Weill Cornell Medicine Qatar, Education City, Doha, Qatar
Medical Molecular Genetics, Institute Human Genetics and Genome Research, National Research Centre, Dokki, Egypt
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Affiliation as printed
Department of Neurology University of Minnesota Minneapolis Minnesota USA
Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA
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Affiliation as printed
Department of Neurology University of Minnesota Minneapolis Minnesota USA
Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA
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Affiliation as printed
Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran
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Ahvaz Jundishapur University of Medical Sciences
Affiliation as printed
Department of Medical Genetics, Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran
Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
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Ahvaz Jundishapur University of Medical Sciences
Affiliation as printed
Diabetes Research Center, Health Research Institute Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran
Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran
Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
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Shahid Beheshti University · Shahid Beheshti University of Medical Sciences
Affiliation as printed
Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran
Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Affiliation as printed
Department of Pediatrics Baylor College of Medicine Houston TX USA
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
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Affiliation as printed
Department of Pediatrics Baylor College of Medicine Houston TX USA
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
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Affiliation as printed
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
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Affiliation as printed
Department of Pediatrics Baylor College of Medicine Houston TX USA
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
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Affiliation as printed
Department of Pediatrics Baylor College of Medicine Houston TX USA
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
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Baylor College of Medicine · Baylor Genetics
Affiliation as printed
Baylor Genetics Laboratories Houston TX USA
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA
Baylor Genetics Laboratories, Houston, TX, USA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
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Baylor College of Medicine · Texas Children's Hospital
Affiliation as printed
Department of Pathology Department of Pathology and Immunology Texas Children's Hospital Baylor College of Medicine Houston TX USA
Department of Pathology, Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA
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Affiliation as printed
Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL GOS‐Institute of Child Health London UK
Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK
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Lady Hardinge Medical College · Kalawati Saran Children's Hospital
Affiliation as printed
Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital New Delhi India
Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India
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Affiliation as printed
Institute for Clinical Genetics and Tumour Genetics Bonn Germany
Laboratoire national de santé, National Center of Genetics, Dudelange, Luxembourg
Institute for Clinical Genetics and Tumour Genetics, Bonn, Germany
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Krankenhaus St. Elisabeth und St. Barbara
Affiliation as printed
Department of Pediatrics Krankenhaus St. Elisabeth und St. Barbara Halle (Saale) Germany
Department of Pediatrics, Krankenhaus St. Elisabeth und St. Barbara, Halle (Saale), Germany
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Heidelberg University · University Hospital Heidelberg
Affiliation as printed
Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg Heidelberg University Heidelberg Germany
Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany
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Boston Children's Hospital · Harvard University
Affiliation as printed
Movement Disorders Program, Department of Neurology, Boston Children's Hospital Harvard Medical School Boston MA USA
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
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Affiliation as printed
Department of Medical Genetics Konya City Hospital Konya Turkey
Department of Medical Genetics, Konya City Hospital, Konya, Turkey
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University of California, San Francisco
Affiliation as printed
Department of Pediatrics, Division of Medical Genetics University of California at San Francisco San Francisco CA USA
Department of Pediatrics, Division of Medical Genetics, University of California at San Francisco, San Francisco, CA, USA
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Affiliation as printed
Division of Genetic Medicine, Department of Pediatrics University of Washington Seattle WA USA
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA
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Affiliation as printed
Christliches Kinderhospital Osnabrück Osnabrück Germany
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Monash Health · Monash University
Affiliation as printed
Department of Paediatrics Monash University Melbourne Vic Australia
Monash Genetics Monash Health Melbourne Vic Australia
Department of Paediatrics, Monash University, Melbourne, Vic, Australia
Monash Genetics, Monash Health, Melbourne, Vic, Australia
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Sidra Medical and Research Center · Hamad bin Khalifa University
Affiliation as printed
Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar
Research Branch, Sidra Medicine, Doha
Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar
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Heinrich Heine University Düsseldorf
Affiliation as printed
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty Heinrich‐Heine‐University Düsseldorf Germany
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Affiliation as printed
Department of Pediatrics Hospital Dritter Orden Munich Germany
Department of Pediatrics, Hospital Dritter Orden, Munich, Germany
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St George’s University Hospitals NHS Foundation Trust
Affiliation as printed
St George's University Hospitals NHS Foundation Trust London UK
St George's University Hospitals NHS Foundation Trust, London, UK
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Affiliation as printed
Faculty of Medicine University of Tartu Tartu Estonia
Faculty of Medicine, University of Tartu, Tartu, Estonia
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Amrita Institute of Medical Sciences and Research Centre
Affiliation as printed
Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Center Cochin India
Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Center Cochin India
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Affiliation as printed
Department of Metabolic and Genetic Disorders Ziv, Medical Center Safed Israel
Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel
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Affiliation as printed
Department of Metabolic and Genetic Disorders Ziv, Medical Center Safed Israel
Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel
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Greater Baltimore Medical Center
Affiliation as printed
Harvey Institute for Human Genetics, Greater Baltimore Medical Center Baltimore MD USA
Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
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Greater Baltimore Medical Center
Affiliation as printed
Harvey Institute for Human Genetics, Greater Baltimore Medical Center Baltimore MD USA
Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
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Assistance Publique – Hôpitaux de Paris · Pitié-Salpêtrière Hospital · Université Pierre-et-Marie-Curie
Affiliation as printed
APHP, Hôpital Pitié‐Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares GRC UPMC Déficience Intellectuelle et Autisme Paris France
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Assistance Publique – Hôpitaux de Paris · Pitié-Salpêtrière Hospital · Université Pierre-et-Marie-Curie
Affiliation as printed
APHP, Hôpital Pitié‐Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares GRC UPMC Déficience Intellectuelle et Autisme Paris France
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Hôpitaux Universitaires de Strasbourg · Hôpital d'Hautepierre
Affiliation as printed
Service de Pédiatrie Centre Hospitalier Universitaire (CHU) de Strasbourg‐Hautepierre Strasbourg France
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Tartu University Hospital · University of Tartu
Affiliation as printed
Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine University of Tartu Tartu Estonia
Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
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Affiliation as printed
Department of Pediatric Neurology Government Medical College Thiruvananthapuram India
Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, India
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University Medical Center Utrecht
Affiliation as printed
Department of Pediatric Neurology University Medical Center Utrecht Utrecht the Netherlands
Department of Pediatric Neurology, University Medical Center Utrecht, Utrecht, the Netherlands
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Affiliation as printed
St Bart's Health NHS Trust London UK
St Bart's Health NHS Trust, London, UK
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Saskia Koene Aachen Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands Department of Clinical Genetics
Leiden University Medical Center
Affiliation as printed
Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
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Emory University · Children's Healthcare of Atlanta
Affiliation as printed
Children's Healthcare of Atlanta Emory University Atlanta GA USA
Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA
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Affiliation as printed
Department of Pathology, Sidra Medicine College of Medicine, Qatar University Doha Qatar
Department of Pathology, Sidra Medicine, College of Medicine, Qatar University, Doha, Qatar
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University of Algiers Benyoucef Benkhedda
Affiliation as printed
Department of Pediatrics A, Hussein Dey University Hospital Center University of Algiers 1 Algiers Algeria
Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria
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Affiliation as printed
Department of Pediatric Neurology Sheikh Khalifa Medical City Abu Dhabi United Arab Emirates
Department of Pediatric Neurology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates
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United Arab Emirates University
Affiliation as printed
Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences United Arab Emirates University Al Ain United Arab Emirates
Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
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Affiliation as printed
Stanford Children's Hospital Palo Alto CA USA
Stanford Children's Hospital, Palo Alto, CA, USA
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Shahid Beheshti University · Shahid Beheshti University of Medical Sciences
Affiliation as printed
Department of Medical Genetics, Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran
Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Shahid Beheshti University · Shahid Beheshti University of Medical Sciences
Affiliation as printed
Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Affiliation as printed
Palindrome Isfahan Iran
Palindrome, Isfahan, Iran
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Affiliation as printed
Karyogen Lab Isfahan Iran
Karyogen Lab, Isfahan, Iran
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Affiliation as printed
Department of Laboratory Medicine and Pathology University of Washington Seattle WA USA
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA
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Affiliation as printed
Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
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Cardiff and Vale University Health Board
Affiliation as printed
Cardiff and Vale UHB–AWMGS Cardiff UK
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Oxford University Hospitals NHS Trust
Affiliation as printed
Oxford University Hospitals NHS Foundation Trust Oxford UK
Oxford University Hospitals NHS Foundation Trust, Oxford, UK
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Affiliation as printed
Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital Seattle WA USA
Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, WA, USA
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Affiliation as printed
Department of Neurology, Faculty of Medicine Assiut University Assiut Egypt
Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt
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Karadeniz Technical University
Affiliation as printed
Department of Pediatrics Neurology Karadeniz Technical University Trabzon Turkey
Department of Pediatrics Neurology, Karadeniz Technical University, Trabzon, Turkey
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Centre Hospitalier Universitaire de Nantes
Affiliation as printed
Genetics Department Nantes University Hospital Nantes France
Genetics Department, Nantes University Hospital, Nantes, France
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Centre Hospitalier Universitaire de Nantes
Affiliation as printed
Genetics Department Nantes University Hospital Nantes France
Genetics Department, Nantes University Hospital, Nantes, France
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Centre Hospitalier Universitaire de Nantes
Affiliation as printed
Genetics Department Nantes University Hospital Nantes France
Genetics Department, Nantes University Hospital, Nantes, France
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Affiliation as printed
Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Affiliation as printed
Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Affiliation as printed
Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Affiliation as printed
School of Health Science, Division Biomedicine and Translational Medicine University of Skovde Skovde Sweden
School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Skovde, Sweden
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UCL Queen Square Institute of Neurology · University College London
Affiliation as printed
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
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Affiliation as printed
Department of Cell and Molecular Biology & Microbiology, Faculty of Science and Technology University of Isfahan Isfahan Iran
Department of Cell and Molecular Biology & Microbiology, Faculty of Science and Technology University of Isfahan Isfahan Iran
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Mashhad University of Medical Sciences
Affiliation as printed
Department of Neurology Mashhad University of Medical Sciences Mashhad Iran
Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran
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Mashhad University of Medical Sciences
Affiliation as printed
Department of Neurology Mashhad University of Medical Sciences Mashhad Iran
Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran
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Mashhad University of Medical Sciences
Affiliation as printed
Department of Pediatrics, School of Medicine Mashhad University of Medical Sciences Mashhad Iran
Rare Pediatric Neurological Diseases Research Center Mashhad University of Medical Sciences Mashhad Iran
Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
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North Khorasan University of Medical Sciences
Affiliation as printed
Department of Pediatrics North Khorasan University of Medical Sciences Bojnurd Iran
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
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King Abdullah International Medical Research Center · National Guard Health Affairs
Affiliation as printed
Department of Genetics and Precision Medicine King Abdullah Specialized Children's Hospital, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs Riyadh Saudi Arabia
Department of Genetics and Precision Medicine, King Abdullah Specialized Children's Hospital, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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Affiliation as printed
Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City UT USA
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
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Hôpital Necker-Enfants Malades
Affiliation as printed
Service de Médecine Génomique des Maladies Rares Hôpital Necker‐Enfants Malades Paris France
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Hôpital Necker-Enfants Malades
Affiliation as printed
Service de Médecine Génomique des Maladies Rares Hôpital Necker‐Enfants Malades Paris France
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Children's Memorial Health Institute
Affiliation as printed
Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland
Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
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