@article {Thalwitzer10.1212 / WNL。0000000000207550,作者={金M Thalwitzer Jan H Driedger和朱莉西安Afshin Saffari Pia米基罗和Bigna K B {\“o} lsterli和莎拉部鲁杰罗和凯蒂·沙利文和亚历山大·N达塔Christoph Kellinghaus和J {\“u} rgen奥尔Adelheid Wiemer-Kruel和安德烈亚斯·Baalen阿明Pampel和迈克尔·阿尔伯和婆婆的M H Braakman Otfried M卸下和乔纳斯Denecke Elke Hobbiebrunken和Ina Breitweg丹尼尔迪和汉斯Eitel怪不得我Gburek-Augustat和马丁Preisel Jan-Ulrich蠢蛋和Mirjam Laufs和Dilbar Mammadova Carsten香肠和拉普拉格Christa L {\“o} hr-Nilles和彼得·马丁和斯文F Garbade康拉德Platzer和Ira Benkel-Herrenbrueck Kerstin egl瓦利德·法和约翰内斯·R Lemke伊娃Runkel和芭芭拉·克莱因和托拜厄斯林登和朱利安•薛定{\ " o和Heike Steffeck}和巴斯蒂安·蒂斯和弗洛里安•冯•Deimling Sabine Illsinger Ingo Borggraefe和Georg克拉森和达格玛Wieczorek格鲁吉亚Ramantani和Stefan Koelker Georg F·霍夫曼和马库斯·里斯和Ingo Helbig Steffen Syrbe}, title ={自然历史和发展轨迹的致病变种在STXBP1}, elocation-id = {10.1212 / WNL。={2023}0000000000207550},年,doi = {10.1212 / WNL。出版商0000000000207550}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景和目标:致病性变异STXBP1是神经发育障碍的主要遗传原因之一。半岛投注体育官网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STXBP1-related疾病患者的临床医生和护理人员获取病史、基因的发现,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分数(GMFCS)和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-related障碍,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(IQR = 3.5 - -9.3)和43.8岁最古老的个人。癫痫会缺席在18/71(25 \ %)的个人。发展结果的范围广泛,包括两个人呈现与接近适龄汽车发展。29/61(48 \ %)个人能够独立行走和24/69(35 \ %)说单身的话。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,比癫痫患者p \ < 0.01)。 Individuals with epileptic spasms were less likely to walk unassisted than individuals with other seizure types (6\% vs. 58\%, p \< 0.01). Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset.Discussion: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset, presented with less favorable motor and language functional outcomes compared to individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders.}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/early/2023/07/05/WNL.0000000000207550}, eprint = {//www.ebmtp.com/content/early/2023/07/05/WNL.0000000000207550.full.pdf}, journal = {Neurology} }