Anwar Arsalan, Saleem Sidra, Patel Urvish K, Arumaithurai Kogulavadanan, Malik Preeti
Neurology, University Hospitals Cleveland Medical Center, Cleveland, USA.
Neurology, University of Toledo, Toledo, USA.
Cureus. 2019 Jun 26;11(6):e5006. doi: 10.7759/cureus.5006.
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.
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。
