2023年8月29日
;101 (9)
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自然历史和发展轨迹的致病变种STXBP1
视图ORCID概要金正日m . Thalwitzer,简·h·Driedger,视图ORCID概要朱莉西安,视图ORCID概要Afshin Saffari,视图ORCID概要Pia米基罗,视图ORCID概要Bigna k Bolsterli,莎拉部鲁杰罗,视图ORCID概要凯蒂·沙利文玫瑰,视图ORCID概要亚历山大·n·达塔,视图ORCID概要Christoph Kellinghaus,尤尔根•奥尔,视图ORCID概要Adelheid Wiemer-Kruel,视图ORCID概要安德烈亚斯·Baalen,阿明Pampel,迈克尔·阿尔伯,视图ORCID概要婆婆M.H. Braakman,Otfried m .卸下,乔纳斯Denecke,视图ORCID概要Elke Hobbiebrunken,艾娜Breitweg,丹妮尔迪,汉斯Eitel,视图ORCID概要怪不得我Gburek-Augustat,马丁Preisel,Jan-Ulrich蠢蛋,Mirjam Laufs,视图ORCID概要Dilbar Mammadova,Carsten香肠,视图ORCID概要克里斯汀·普拉格,Christa Lohr-Nilles,彼得·马丁,视图ORCID概要斯文f . Garbade,视图ORCID概要康拉德Platzer,爱尔兰共和军Benkel-Herrenbrueck,Kerstin egl,瓦利德·法,视图ORCID概要约翰内斯·r·Lemke,伊娃Runkel,芭芭拉克莱因,视图ORCID概要托拜厄斯林登,朱利安散粒,Heike Steffeck,巴斯蒂安·蒂斯,弗洛里安•冯•Deimling,Sabine Illsinger,视图ORCID概要Ingo Borggraefe,Georg克拉森,视图ORCID概要达格玛Wieczorek,视图ORCID概要格鲁吉亚Ramantani,视图ORCID概要Stefan Koelker,Georg f·霍夫曼,视图ORCID概要马库斯·里斯,视图ORCID概要Ingo Helbig,史蒂芬Syrbe
第一次出版2023年7月5日,
DOI: https://doi.org/10.1212/WNL.0000000000207550
金正日m . Thalwitzer
从小儿癫痫学(K.M.T.分工,J.H.D.、可靠,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.
自然历史和发展轨迹的致病变种STXBP1
金米。Thalwitzer,Jan H。Driedger,朱莉西安,AfshinSaffari,Pia米基罗,Bigna K。Bolsterli,莎拉部向鲁杰罗,凯蒂·罗斯沙利文,亚历山大·N。达塔,ChristophKellinghaus,尤尔根••奥尔,AdelheidWiemer-Kruel,安德烈亚斯范Baalen,阿明Pampel,迈克尔阿尔伯,婆婆M.H.Braakman,Otfried M。卸下,乔纳斯Denecke,ElkeHobbiebrunken,在Breitweg,丹尼尔迪赫,汉斯Eitel,怪不得我Gburek-Augustat,马丁Preisel,Jan-Ulrich衣着邋遢的人,MirjamLaufs,DilbarMammadova,Carsten香肠,克里斯汀普拉格,ChristaLohr-Nilles,彼得马丁,斯文F。Garbade,康拉德Platzer,爱尔兰共和军Benkel-Herrenbrueck,Kerstinegl,瓦利德法,约翰内斯·R。Lemke,伊娃Runkel,芭芭拉克莱因,托拜厄斯林登,朱利安散粒,结构Steffeck,巴斯蒂安·蒂斯,弗洛里安冯Deimling,SabineIllsinger,IngoBorggraefe,Georg克拉森,达格玛Wieczorek,乔治亚州Ramantani,StefanKoelker,Georg F。霍夫曼,马库斯里斯,IngoHelbig,史蒂芬Syrbe
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2023年8月,
101年
(9)
e879-e891;
DOI:10.1212 / WNL.0000000000207550
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