STXBP1 encephalopathy is associated with awake bruxism
STXBP1 encephalopathy is associated with awake bruxism
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DOI：
10.1016/j.yebeh.2018.12.018
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发表时间：
2019-03-01
影响因子：
2.6
通讯作者：
Andrade, Danielle M.
中科院分区：
文献类型：
--
作者：
Rezazadeh, Arezoo;Uddin, Mohammed;Andrade, Danielle M.
突触融合蛋白结合蛋白1（STXBP 1）基因杂合突变与早期婴儿癫痫性脑病4（EIEE 4）相关这种情况的特征是癫痫，发育迟缓（DD）和各种运动障碍。在此，我们将报告5例不同的STXBP 1从头突变无关的患者。此外，我们通过Facebook进行了一项在线调查，以确定这些患者的磨牙症（BRX）发生率。5例患者中有4例（80%）出现清醒BRX（A-BRX）。通过在线问卷调查，81.4%（57/70）的STXBP 1脑病患者还报告了磨牙症。在突变类型和运动障碍或BRX的发展之间没有一致的相关性。这是第一项在STXBP 1突变患者中证明A-BRX的研究。鉴于STXBP 1在神经递质胞吐和STXBPI-EIEE 4患者多巴胺失调的其他表现中的作用，我们认为STXBP 1脑病患者的A-BRX可能是多巴胺能回路参与的结果。(C)2018爱思唯尔公司All rights reserved.
Heterozygous mutations in syntaxin-binding protein 1 (STXBP1) gene arc associated with early infantile epileptic encephalopathy 4 (EIEE4). This condition is characterized by epilepsy, developmental delay (DD), and various movement disorders. Herein, we will report 5 unrelated patients with different de novo mutations in STXBP1. In addition, we conducted an online survey through Facebook to identify the incidence of bruxism (BRX) in these patients. Four out of 5 patients (80%) presented with awake BRX (A-BRX). Bruxism was also reported in 81.4% (57/70) of the patients with STXBP1 encephalopathy through the online questionnaire. No consistent correlation was identified between the type of mutation and development of movement disorders or BRX. This is the first study to demonstrate A-BRX in patients with STXBP1 mutation. Given the role of STXBP1 in exocytosis of neurotransmitters and other manifestations of dopamine dysregulation in patients with STXBPI-EIEE4, we suggest that in patients with STXBP1 encephalopathy, A-BRX might be the result of the involvement of dopaminergic circuits. (C) 2018 Elsevier Inc. All rights reserved.