在STXBP1中具有致病变体的个体的自然历史和发育轨迹

Kim M Thalwitzer¹, Jan H Driedger¹, Julie Xian¹+51

• ¹From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (K.M.T., J.X., S.M.R., K.R.S., I.H.), Division of Neurology (J.X., S.M.R., K.R.S., I.H.), and Department of Biomedical and Health Informatics (DBHi) (J.X., I.H.), Children's Hospital of Philadelphia, PA; Epilepsy Center Kleinwachau (P.Z.), Radeberg, Germany; Department of Neuropediatrics and Children's Research Center (B.K.B., G.R.), University Children's Hospital Zurich, University of Zurich; Department of Pediatric Neurology (B.K.B.), Children's Hospital of Eastern Switzerland, Sankt Gallen; Department of Pediatric Neurology and Developmental Medicine (A.N.D.), University Children's Hospital Basel UKBB, Switzerland; Department of Neurology (C.K.), Klinikum Osnabrück; Epilepsy Center (C.K.), Münster-Osnabrück, Campus Osnabrück; Department of Pediatrics (J.A.), Christophorus Hospital Coesfeld; Epilepsy Center Kork (A.W.-K.), Clinic for Children and Adolescents, Kehl-Kork; Department of Neuropediatrics (A.v.B., M.L.), University Medical Center Schleswig-Holstein, Kiel University (CAU); Center for Social Pediatrics (A.P.), Johannes Wesling Klinikum Minden; Department of Pediatric Neurology and Developmental Medicine (M.A.), University Children's Hospital, Tübingen, Germany; Department of Pediatric Neurology (H.M.H.B.), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (O.M.D.), Clemenshospital Münster; Department of Pediatrics (J.D.), University Medical Center Hamburg-Eppendorf; Division of Pediatric Neurology (E.H.), Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen; Kinderärzte Ammersee (I. Breitweg), Neubruch 1, Inning an Ammersee; Department of Neuropediatrics (D.D.), University Hospital Giessen; Department of Neuropediatrics (H.E.), Klinikum Esslingen; Division of Neuropediatrics (J.G.-A.), Hospital for Children and Adolescents, University Hospital Leipzig, Germany; Department of Neuropediatrics (M.P.), Children University Hospital and Paracelsus Medical University, Salzburg, Austria; Department of Neuropediatrics (J.-U.S.), Gemeinschaftskrankenhaus Herdecke; Department of Pediatrics and Adolescent Medicine (D.M.), and Center for Social Pediatrics (D.M.), University Hospital Erlangen, Friedrich-Alexander-Universität (FAU); Department of Pediatric Neurology (C.W.), SRH Zentralklinikum Suhl; Department of Pediatric Neurology (C.P.), and Center for Chronically Sick Children (C.P.), Charité-Universitätsmedizin Berlin; Department of Pediatric Neurology (C.L.-N.), Klinikum Mutterhaus der Borromäerinnen gGmbH, Trier; Séguin-Clinic for Persons with Severe Intellectual Disability (P.M.), Epilepsy Centre Kork; Medical Faculty (P.M.), University of Freiburg; Institute of Human Genetics (K.P., J.R.L.), University of Leipzig Medical Center; Sana-Krankenhaus Düsseldorf-Gerresheim (I.B.-H.), Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf; Department of Neuropediatrics (K.E.), Sankt Elisabeth, KJF Klinik, Neuburg an der Donau; Department of Neuropediatrics (W.F.), Children's Hospital, University of Bonn; Center of Rare Diseases (J.R.L.), University of Leipzig Medical Center; Klinikum Aschaffenburg-Alzenau (E.R.); Department of Neuropediatrics (B.K.), Klinikum Frankfurt Höchst GmbH; Department of Neuropediatrics (T.L.), University Children's Hospital, Klinikum Oldenburg; Department of Neuropediatrics (H.S.), Klinikum Wolfsburg; Kinderneurologie Thies (B.T.), Lüneburg; Sozialpädiatrisches Zentrum Coburg (F.v.D.); Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases (S.I.), Hannover Medical School; Division of Pediatric Neurology and Developmental Medicine (I. Borggraefe), Department of Pediatrics, University Hospital of the Ludwig-Maximilians-University of Munich; Department of Pediatrics (G.C.), Evangelisches Klinikum Bethel, University Hospital Owl, University Bielefeld; Institute of Human Genetics (D.W.), Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany; and Department of Neurology (I.H.), University of Pennsylvania Perelman School of Medicine, Philadelphia.+1