doi: 10.1212 / WNL.0000000000207550。
Epub 2023 7月5。
自然历史和发展轨迹的致病变种STXBP1
金米Thalwitzer1,
Jan H Driedger1,
朱莉西安1,
Afshin Saffari1,
Pia米基罗1,
Bigna K Bolsterli1,
莎拉部鲁杰罗1,
凯蒂·沙利文玫瑰1,
亚历山大·N达塔1,
Christoph Kellinghaus1,
尤尔根•奥尔1,
Adelheid Wiemer-Kruel1,
安德烈亚斯·Baalen1,
阿明Pampel1,
迈克尔·阿尔伯1,
婆婆的M H Braakman1,
Otfried M卸下1,
乔纳斯Denecke1,
Elke Hobbiebrunken1,
艾娜Breitweg1,
丹妮尔迪1,
汉斯Eitel1,
怪不得我Gburek-Augustat1,
马丁Preisel1,
Jan-Ulrich蠢蛋1,
Mirjam Laufs1,
Dilbar Mammadova1,
Carsten香肠1,
克里斯汀·普拉格1,
Christa Lohr-Nilles1,
彼得·马丁1,
斯文F Garbade1,
康拉德Platzer1,
爱尔兰共和军Benkel-Herrenbrueck1,
Kerstin egl1,
瓦利德·法1,
约翰内斯·R Lemke1,
伊娃Runkel1,
芭芭拉克莱因1,
托拜厄斯林登1,
朱利安散粒1,
Heike Steffeck1,
巴斯蒂安·蒂斯1,
弗洛里安•冯•Deimling1,
Sabine Illsinger1,
Ingo Borggraefe1,
Georg克拉森1,
达格玛Wieczorek1,
格鲁吉亚Ramantani1,
Stefan Koelker1,
Georg F霍夫曼1,
马库斯·里斯1,
Ingo Helbig1,
史蒂芬Syrbe2
从属关系
从属关系
- 1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.
- 2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. steffen.syrbe@med.uni-heidelberg.de.
- PMID:37407264
- DOI:10.1212 / WNL.0000000000207550
项剪贴板
自然历史和发展轨迹的致病变种STXBP1
金米Thalwitzeret al。
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doi: 10.1212 / WNL.0000000000207550。
Epub 2023 7月5。
作者
金米Thalwitzer1,
Jan H Driedger1,
朱莉西安1,
Afshin Saffari1,
Pia米基罗1,
Bigna K Bolsterli1,
莎拉部鲁杰罗1,
凯蒂·沙利文玫瑰1,
亚历山大·N达塔1,
Christoph Kellinghaus1,
尤尔根•奥尔1,
Adelheid Wiemer-Kruel1,
安德烈亚斯·Baalen1,
阿明Pampel1,
迈克尔·阿尔伯1,
婆婆的M H Braakman1,
Otfried M卸下1,
乔纳斯Denecke1,
Elke Hobbiebrunken1,
艾娜Breitweg1,
丹妮尔迪1,
汉斯Eitel1,
怪不得我Gburek-Augustat1,
马丁Preisel1,
Jan-Ulrich蠢蛋1,
Mirjam Laufs1,
Dilbar Mammadova1,
Carsten香肠1,
克里斯汀·普拉格1,
Christa Lohr-Nilles1,
彼得·马丁1,
斯文F Garbade1,
康拉德Platzer1,
爱尔兰共和军Benkel-Herrenbrueck1,
Kerstin egl1,
瓦利德·法1,
约翰内斯·R Lemke1,
伊娃Runkel1,
芭芭拉克莱因1,
托拜厄斯林登1,
朱利安散粒1,
Heike Steffeck1,
巴斯蒂安·蒂斯1,
弗洛里安•冯•Deimling1,
Sabine Illsinger1,
Ingo Borggraefe1,
Georg克拉森1,
达格玛Wieczorek1,
格鲁吉亚Ramantani1,
Stefan Koelker1,
Georg F霍夫曼1,
马库斯·里斯1,
Ingo Helbig1,
史蒂芬Syrbe2
从属关系
- 1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.
- 2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. steffen.syrbe@med.uni-heidelberg.de.
- PMID:37407264
- DOI:10.1212 / WNL.0000000000207550
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文摘
背景和目的:致病性变异在STXBP1是神经发育障碍的主要遗传原因之一。尽管越来越多的个体诊断癫痫的历史,对这个群的自然历史和发展轨迹和端点为未来治疗的研究仅限于发作控制。
方法:我们进行了横断面回顾性研究使用标准化的问卷调查患者的临床医生和护理人员STXBP1有关的疾病捕捉病史、遗传研究和发展的结果。电动机和语言功能评估使用粗大运动功能分类系统(GMFCS)分数和一个语音障碍得分和比较内部和在临床定义的子组。
结果:我们收集数据的71人STXBP1有关的疾病,其中包括44名以前未报告的个人。包含年龄中位数为5.3年(四分位范围3.5 - -9.3)和43.8岁最古老的个人。癫痫会缺席在18/71(25%)的人。发展结果的范围广泛,包括2个人出现接近适龄的运动发育。29岁的61人(48%)能独立行走,和24/69(35%)能说单个词。个人没有癫痫出现相似的表型出现和频谱特性但GMFCS得分较低(平均3和4,p< 0.01)比患有癫痫症。癫痫痉挛患者不太可能比个人独立行走与其他类型的癫痫发作(6% vs 58%,p< 0.01)。语言障碍得分较高的患者早期癫痫发作(p= 0.02)比个人与后来的癫痫发作。
讨论:我们扩大的光谱STXBP1有关的疾病,并提供临床特征和发展轨迹在患者和无癫痫史。患有癫痫,特别是癫痫痉挛,和新生儿或早发性,不利于汽车和语言功能结果相比,个人没有癫痫。这些研究结果确定孩子患严重疾病的风险,可以作为未来介入研究比较器STXBP1有关的疾病。
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