1 Division of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
2 Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, the Netherlands; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy; United for Metabolic Diseases (UMD), Amsterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
3 Division of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
4 Department of Pathology, Boston Children's Hospital, Boston, MA, USA.
5 Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
6 Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
7 Mitochondrial Biology and Neurodegeneration Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
8 Division of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA.
9 Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
10 Division of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
11 Division of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
12 Division of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.