德雷维特综合征概述
Dravet Syndrome: An Overview.
作者信息
Anwar Arsalan, Saleem Sidra, Patel Urvish K, Arumaithurai Kogulavadanan, Malik Preeti
机构信息
Neurology, University Hospitals Cleveland Medical Center, Cleveland, USA.
Neurology, University of Toledo, Toledo, USA.
出版信息
Cureus. 2019 Jun 26;11(6):e5006. doi: 10.7759/cureus.5006.
Abstract
Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities. The convulsive seizure is the most common type seen in DS. After the first episode of seizure-like activity, behavioral disorders and cognitive decline are progressive and long-lasting. The most common etiology identified in patients with DS is a de-novo genetic mutation alpha-1 subunit of voltage-gated calcium channel gene (SCN1A). DS is diagnosed clinically and if unclear, genetic testing is recommended. DS treatment options include anti-epileptic drugs and cannabinoids; ketogenic diet therapy and surgical options such as the deep brain and vagal nerve stimulation. Due to drug-refractory epilepsy in DS, many more therapies are being investigated to increase the longevity of patients.
摘要
德雷维特综合征（DS），也称为婴儿严重肌阵挛性癫痫（SMEI），是罕见的早期儿童难治性癫痫性脑病之一，与多形性癫痫发作活动、认知衰退、运动和行为异常有关。惊厥性癫痫发作是DS中最常见的类型。在首次出现癫痫样活动后，行为障碍和认知衰退会逐渐发展且持续时间长。DS患者中确定的最常见病因是电压门控钙通道基因（SCN1A）的新生基因突变。DS通过临床诊断，若诊断不明确，建议进行基因检测。DS的治疗选择包括抗癫痫药物和大麻素；生酮饮食疗法以及深部脑刺激和迷走神经刺激等手术选择。由于DS患者存在药物难治性癫痫，目前正在研究更多疗法以提高患者的寿命。
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1
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Seizure. 2018 Nov;62:99-105. doi: 10.1016/j.seizure.2018.09.010. Epub 2018 Sep 14.
2
Current Treatment Strategies and Future Treatment Options for Dravet Syndrome.德雷维特综合征的当前治疗策略及未来治疗选择
Curr Treat Options Neurol. 2018 Oct 13;20(12):52. doi: 10.1007/s11940-018-0537-y.
3
A prospective open-label trial of a CBD/THC cannabis oil in dravet syndrome.一项关于CBD/THC大麻油治疗德雷维特综合征的前瞻性开放标签试验。
Ann Clin Transl Neurol. 2018 Aug 1;5(9):1077-1088. doi: 10.1002/acn3.621. eCollection 2018 Sep.
4
Juvenile Myoclonic Epilepsy Presenting with Neurocognitive Impairment: A Case Report.伴有神经认知障碍的青少年肌阵挛癫痫：一例报告
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West Syndrome: A Review and Guide for Paediatricians.婴儿痉挛症：儿科医生的综述与指导。
Clin Drug Investig. 2018 Feb;38(2):113-124. doi: 10.1007/s40261-017-0595-z.
6
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Curr Neuropharmacol. 2018;16(1):66-70. doi: 10.2174/1570159X15666170517153509.
7
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J Neurol Sci. 2017 Apr 15;375:146-149. doi: 10.1016/j.jns.2017.01.057. Epub 2017 Jan 21.
8
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Pediatr Neurol. 2017 Mar;68:18-34.e3. doi: 10.1016/j.pediatrneurol.2017.01.025. Epub 2017 Feb 4.
9
Efficacy and tolerability of levetiracetam for pediatric refractory epilepsy.左乙拉西坦治疗小儿难治性癫痫的疗效和耐受性
Brain Dev. 2017 Mar;39(3):231-235. doi: 10.1016/j.braindev.2016.09.008. Epub 2016 Oct 13.
10
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