RT期刊文章SR电子T1自然历史和发展轨迹的致病变种在STXBP1摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯10.1212 SP / WNL。半岛投注体育官网0000000000207550 10.1212 / WNL。0000000000207550 A1金正日M Thalwitzer A1 Jan H Driedger A1朱莉西安A1 Afshin Saffari A1 Pia米基罗A1 Bigna K Bolsterli A1莎拉部鲁杰罗A1凯蒂玫瑰沙利文A1 Alexandre N达塔A1 Christoph Kellinghaus A1尤尔根•奥尔A1 Adelheid Wiemer-Kruel A1 Andreas van Baalen A1阿明Pampel A1迈克尔·阿尔伯A1(婆婆M H Braakman A1 Otfried M卸下A1乔纳斯Denecke A1 Elke Hobbiebrunken A1在Breitweg A1丹尼尔迪A1汉斯Eitel A1怪不得我Gburek-Augustat A1马丁Preisel A1 Jan-Ulrich蠢蛋A1 Mirjam Laufs A1 Dilbar Mammadova A1 Carsten香肠A1拉普拉格A1 Christa Lohr-Nilles A1彼得·马丁A1斯文F Garbade A1康拉德Platzer A1 Ira Benkel-Herrenbrueck A1 Kerstin egl A1瓦利德·法A1约翰R Lemke A1 Eva Runkel A1芭芭拉克莱恩A1托拜厄斯林登A1朱利安散粒A1 Heike Steffeck A1巴斯蒂安·蒂斯A1弗洛里安•冯•Deimling A1 Sabine Illsinger A1 Ingo Borggraefe A1 Georg克拉森A1达格玛Wieczorek A1格鲁吉亚Ramantani A1 Stefan Koelker A1 Georg F·霍夫曼A1马库斯·里斯A1 Ingo Helbig A1 Steffen Syrbe年2023 UL //www.ebmtp.com/content/early/2023/07/05/WNL.0000000000207550.abstract AB背景和目标:致病性变异在STXBP1主要遗传神经发育障碍的原因之一。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%)的人能够独立行走和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,比癫痫患者p < 0.01)。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%比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.

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