Akiyama Mari, Kobayashi Katsuhiro, Ohtsuka Yoko
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital, Okayama 700-8558, Japan.
Acta Med Okayama. 2012;66(5):369-76. doi: 10.18926/AMO/48961.
Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. The key feature that characterizes DS is fever sensitivity, although photosensitivity and pattern-sensitivity are also often seen. The prognosis is unfavorable in most cases. Seizures become drug-resistant and persist, with many patients suffering from motor and cognitive impairment. Mutations of SCN1A, which encodes the voltage-gated sodium channel NaV1.1, are the most frequent genetic cause of this syndrome. SCN1A mutations and/or microchromosomal rearrangements involving SCN1A are detected in about 85ｵ of patients. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might account for 5ｵ of overall DS cases. Thirty years after its first description, DS is considered as a model of channelopathy. This survey reviews recent developments in the research literature on DS, focusing on the clinical course, as well as its genetic causes.
德雷维特综合征（DS），即婴儿严重肌阵挛性癫痫，是最严重的遗传性癫痫类型之一。其特征为在发育正常的婴儿中最初出现热性或无热惊厥，且常演变为癫痫持续状态，随后出现肌阵挛和/或非典型失神发作以及复杂部分性发作。DS的关键特征是发热敏感性，不过光敏感性和图形敏感性也较为常见。多数情况下预后不佳。癫痫发作会产生耐药性并持续存在，许多患者会出现运动和认知障碍。编码电压门控钠通道NaV1.1的SCN1A突变是该综合征最常见的遗传病因。约85%的患者可检测到SCN1A突变和/或涉及SCN1A的微小染色体重排。在临床表现与DS相符的女性患者中也报告了PCDH19突变。PCDH19突变可能占DS病例总数的5%。在首次描述DS三十年后，它被视为一种通道病模型。本综述回顾了DS研究文献中的最新进展，重点关注临床病程及其遗传病因。
