Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Autor: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW

Publikováno v: Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the similar to 65 genes encoding the complex I structural subunits o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48
https://www.repository.cam.ac.uk/handle/1810/293025

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma.

Autor: Feichtinger RG, Zimmermann F, Mayr JA, Neureiter D, Hauser-Kronberger C, Schilling FH, Jones N, Sperl W, Kofler B, Feichtinger, Rene' G, Zimmermann, Franz, Mayr, Johannes A, Neureiter, Daniel, Hauser-Kronberger, Cornelia, Schilling, Freimut H, Jones, Neil, Sperl, Wolfgang, Kofler, Barbara

Publikováno v: BMC Cancer; 2010, Vol. 10, p149-149, 1p

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

Autor: Véronique Rüfenacht, Johannes A. Mayr, Michele Costanzo, Johannes Häberle, Søren W Gersting, Margherita Ruoppolo, Noémie Remacle, Clothilde Roux, Martin Poms, Madalena Barroso, Marianna Caterino, René G. Feichtinger, Hong-Phuc Cudré-Cung, Mary Gonzalez Melo, Olivier Braissant, Cristina Cudalbu, Diana Ballhausen

Publikováno v: Molecular genetics and metabolism. 133(2)

Glutaric aciduria type I (GA-I, OMIM # 231670) is an inborn error of metabolism caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients develop acute encephalopathic crises (AEC) with striatal injury most often triggered by catabolic st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6019eec29ea383cf7a6d2a44ee675b
https://pubmed.ncbi.nlm.nih.gov/33965309

Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Autor: Smith CEL; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK bgycels@leeds.ac.uk., Laugel-Haushalter V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France., Hany U; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Best S; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Taylor RL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; EMQN CIC, Manchester, UK., Poulter JA; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Wortmann SB; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Feichtinger RG; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Al Bahlani S; Dental & OMFS Clinic, Al Nahdha Hospital, Government of Oman Ministry of Health, Muscat, Oman., Nikolopoulos G; Institute for Fundamental Biomedical Research, BSRC Alexander Fleming, Vari, Greece., Rigby A; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Black GC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Mansour S; Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, St George's Hospital, University of London, London, UK.; SW Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Inglehearn CF; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Mighell AJ; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Bloch-Zupan A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 689-698. Date of Electronic Publication: 2024 Jun 20.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Autor: Wortmann SB; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Feichtinger RG; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Abela L; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., van Gemert LA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Aubart M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Dufeu-Berat CM; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Boddaert N; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., de Coo R; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Stühn L; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hebbink J; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Heinritz W; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Hildebrandt J; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Himmelreich N; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Korenke C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Lehman A; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Leyland T; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Makowski C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Martinez Marin RJ; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Marzin P; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Mühlhausen C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Rio M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Rotig A; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Roux CJ; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Schiff M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Haack TB; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Syrbe S; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Zylicz SA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Thiel C; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Veiga da Cunha M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., van Schaftingen E; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Wagner M; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Mayr JA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Wevers RA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Boltshauser E; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Willemsen MA; From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Neurology. Genetics [Neurol Genet] 2024 Apr 05; Vol. 10 (2), pp. e200146. Date of Electronic Publication: 2024 Apr 05 (Print Publication: 2024).