Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, VIC, Australia

Guy Helman & Cas Simons

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia

Guy Helman & Cas Simons

Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Marisa I. Mendes, Desiree E. C. Smith & Gajja S. Salomons

Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Francesco Nicita, Rosalba Carrozzo, Alessandra Torraco, Michela Catteruccia, Chiara Aiello & Enrico Bertini

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

Lama Darbelli, Travis Moore, Alexa Derksen & Geneviève Bernard

Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

Lama Darbelli, Travis Moore, Alexa Derksen & Geneviève Bernard

Department of Pediatrics, McGill University, Montreal, QC, Canada

Lama Darbelli & Geneviève Bernard

Department of Human Genetics, McGill University, Montreal, QC, Canada

Lama Darbelli & Geneviève Bernard

Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

Omar Sherbini,  Amy Pizzino & Adeline Vanderver

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy

Paola Goffrini & Sonia Figuccia

Department of Medical Genetics, University of Pécs, Pécs, Hungary

Kinga Hadzsiev

Department of Child Neurology, Justus-Liebig-University, Giessen, Germany

Andreas Hahn

Praxis fuer Humangenetik and CeGaT GmbH, Tuebingen, Germany

Saskia Biskup

Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Ines Brösse & Urania Kotzaeridou

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany

Darja Gauck & Tobias B. Haack

Division of Genetics and Metabolism, Department of Child Health, Phoenix Children’s Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA

Theresa A. Grebe

South West Thames Regional Genetics Service, St George’s University Hospital, London, UK

Frances Elmslie

Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

Karen Stals

Department of Neurology, Birmingham Children’s Hospital, Birmingham, UK

Rajat Gupta

Children’s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA

Isabelle Thiffault

Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO, USA

Isabelle Thiffault

School of Medicine, University of Missouri–Kansas City, Kansas City, MO, USA

Isabelle Thiffault

Illumina, Inc, San Diego, CA, USA

Ryan J. Taft

Baylor Scott & White Research Institute, Dallas, TX, USA

Raphael Schiffmann

Department of Neuropediatrics, Jena University Hospital, Jena, Germany

Ulrich Brandl & Ralf A. Husain

Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, Amsterdam, The Netherlands

Marjo S. van der Knaap

Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands

Marjo S. van der Knaap

Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA

Adeline Vanderver

G.H., A.V., R.A.H. were responsible for conceptualization and supervision of the project. G.H. wrote the first draft and performed data curation, investigation, determined the methodology and performed formal analysis. M.I.M., F.N., L.D., O.S., T.M., A.D., A.P., R.C., A.T., M.C., C.A., P.G., S.F., D.E.C.S., K.H., A.H., S.B., I.B., U.K., D.G., T.A.G., F.E., K.S., R.G., E.B., I.T., R.J.T., R.S., U.B., T.B.H., G.S.S., C.S., G.B., and M.S.v.d.K. performed formal analysis and investigation. A.P., I.B., D.G., T.A.G., F.E., K.S., I.T., R.J.T., T.B.H., and C.S. performed variant curation. R.C., E.B., R.J.T., G.B., M.S.v.d.K., and A.V. performed funding acquisition. All authors reviewed and approved the manuscript prior to submission.