Lessons learned from 40 novel PIGA patients and a review of the literature.

Address: Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany.; CRMR Congenital Malformations and Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Department of Genetics, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Children's Hospital, Fürth, Germany.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; UMR1056 INSERM-Université de Toulouse, Department of Genetics, University Hospital of Toulouse, Toulouse, France.; Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; UMR S1127, Inserm U1127, CNRS UMR 7225, Institute of brain and spinal cord, Sorbonne University, Paris, France.; Neurology Department, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Department of Pediatric Neurology, AP-HP, GHUEP, Armand Trousseau University Hospital, Paris, France.; GRC ConCer-LD, Sorbonne University, UPMC University of Paris 06, Paris, France.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sleep Disorders Center, AP-HP, Antoine-Béclère Hospital, Clamart, France.; Department of Pediatrics and Neonatal Intensive Care, André Grégoire Hospital, Montreuil, France.; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandy University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Cellular and Molecular Medicine, Faculty of Health Science, Copenhagen Center for Glycomics, Copenhagen, Denmark.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Neuropediatrics Department, University Hospital of Toulouse, Toulouse, France.; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Pediatric Neurology Unit, Department of the Woman, Child, and Adolescent, University Hospitals Geneva, Geneva, Switzerland.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Department of Genetics, Du Havre Hospital, Le Havre, France.; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; Institut Neuromyogene, University Claude Bernard Lyon 1, Lyon University, Lyon, France.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA.; APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Reference Center for Rare Causes of Intellectual Disabilities, Paris, France.; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France.; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Department of Genetics, University of Bordeaux, Bordeaux, France.; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France.; Department of Neuropaediatrics, Armand Trousseau Hospital, APHP, Paris, France.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA.; Department of Epilepsy, Zwolle, the Netherlands.; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Department of Clinical Genetics, Rigshospitalet/Kennedy Center, Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA.; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, Ohio, USA.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.