Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening

Affiliations

• ¹ Department of Pediatrics, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
• ² United for Metabolic Diseases, Amsterdam, The Netherlands.
• ³ Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
• ⁴ Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
• ⁵ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
• ⁶ Department of Pediatrics, Máxima Medical Centre, Veldhoven, The Netherlands.
• ⁷ Department of Radiology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
• ⁸ Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.
• ⁹ Department of Pediatrics, Duke University, Durham, NC, USA.
• ¹⁰ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
• ¹¹ Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.