RT期刊文章SR电子T1 STXBP1在清醒与磨牙症患者(p2.5 - 008)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP p2.5补充92 - 008签证官是首页15 A1 Arezoo Rezazadeh A1维克多里拉A1亚历山德拉Silberberg A1雪莱维斯A1伊丽莎白·唐纳A1玛丽亚Zak A1劳拉·布拉德伯里A1穆罕默德Uddin A1斯蒂芬·谢勒A1 o .大镰刀刀柄A1阿方索法萨诺A1丹尼尔·安德拉德年2019 UL //www.ez-admanager.com/content/92/15_supplement/p2.5 - 008. -文摘AB目的:我们报告5无关的新创STXBP1突变和扩大患者表型。背景:在STXBP1的杂合突变基因与早期小儿癫痫脑病4 (EIEE4)。这种情况的特点是癫痫、发育迟缓和各种各样的运动障碍。设计/方法:我们临床特点5例包括3成人患者的平均年龄33年(7-46)。结果:在STXBP1三人进行错义突变,而基因内删除和拼接网站删除被确定在其他2例。病人出现发育迟缓和难治性癫痫。两个病人表现出舞蹈,帕金森症中确定2成人患者。三人证明清醒磨牙症(a-BRX),其中一个还舞蹈病和其他帕金森症。第三个病人a-BRX尚未开发的其他运动障碍。之间没有一致的相关性被发现的突变类型和发展运动障碍或磨牙症。结论:这是第一次研究证明患者a-BRX STXBP1突变。在睡眠中磨牙症是常见的,而不是与病理相关。 However, bruxism in awake patients is rare. It has been proposed that a-BRX is a stereotype seen in patients with significant intellectual disability (ID). However, detailed descriptions of movement disorders in patients with Lennox-Gastaut syndrome and Dravet syndrome (conditions associated with intractable epilepsy and severe ID) did not show a-BRX. Given 1) the role of STXBP1 in exocytosis of neurotransmitters, 2) other manifestations of dopamine dysregulation in STXBP1-EIEE4 patients, and 3) previous reports of a-BRX response to L-dopa (in non-STXBP1 cases), we suggest that in patients with STXBP1 a-BRX might be the result of the involvement of dopaminergic circuits. Further studies of the function of STXBP1, analysis of larger samples of STXBP1 patients and a-BRX response to L-dopa are required to better determine the pathophysiology of movement disorders seen in these patients.Disclosure: Dr. Rezazadeh has nothing to disclose. Dr. Lira has nothing to disclose. Dr. Silberberg has nothing to disclose. Dr. Weiss has nothing to disclose. Dr. Donner has nothing to disclose. Dr. Zak has nothing to disclose. Dr. Bradbury has nothing to disclose. Dr. Uddin has nothing to disclose. Dr. Scherer has nothing to disclose. Dr. Snead has nothing to disclose. Dr. Fasano has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Abbvie, Boston Scientific, Medtronic, Sunovion, Ipsen, UCH pharma, Chiesi. Dr. Fasano has received compensation for serving on the Board of Directors of Abbvie, Boston Scientific, Medtronic, Sunovion, Ipsen, UCH pharma, Chiesi. Dr. Fasano has received royalty, license fees, or contractual rights payments from Springer. Dr. Fasano has received research support from Abbvie, Boston Scientific, Medtronic. Dr. Andrade has nothing to disclose.