Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
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DOI：
10.1212/01.wnl.0000249312.73155.7d
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发表时间：
2006-12-26
期刊：
影响因子：
9.9
通讯作者：
Berkovic, S. F.
中科院分区：
文献类型：
--
作者：
Jansen, F. E.;Sadleir, L. G.;Berkovic, S. F.
有一组患有难治性癫痫和智力残疾的成年患者，病因诊断尚未确定。确定病因对治疗和家庭咨询很重要。婴儿严重肌阵挛性癫痫（SMEI; Dravet综合征）于1978年被描述（1），但直到最近才在儿童癫痫人群中得到广泛认识，这是由于神经元钠通道α 1亚基（SCN 1A）基因突变的发现。（2，3）SMEI患者通常在6个月左右出现反复发热性半阵挛或全身性癫痫持续状态。在1至4岁之间，出现其他类型的癫痫发作，包括肌阵挛和部分性癫痫发作。精神发育在第一年是正常的，然后会变慢。癫痫通常是顽固性的，发育结果很差，儿童死亡并不罕见。(4)“边缘性SMEI”（SMEB）是指缺乏一些典型特征的病例，如肌阵挛性癫痫发作。（5）虽然SMEI在儿童期有特征性表现，但成人SMEI未被认识。到目前为止，很少有关于成年人长期进化或表型的数据。（6，7）本研究旨在描述SMEI和SMEB的成人表型。
There is a group of adult patients with intractable epilepsy and intellectual disability in whom no etiologic diagnosis has been established. Determining the etiology is important for treatment and family counseling. Many families carry a burden of blame related to mistaken beliefs about causation.Severe myoclonic epilepsy of infancy (SMEI; Dravet syndrome) was described in 1978(1) but has only recently been widely recognized among childhood epilepsy populations, sparked by the discovery of mutations in the neuronal sodium channel alpha 1 subunit (SCN1A) gene.(2,3) Patients with SMEI typically present with recurrent febrile hemiclonic or generalized status epilepticus at around age 6 months. Between ages 1 and 4, other seizure types appear, including myoclonic and partial seizures. Psychomotor development is normal in the first year and then slows. The epilepsy is often intractable, developmental outcome is poor, and death in childhood is not rare.(4) "Borderline SMEI" (SMEB) refers to cases lacking some of the typical features such as myoclonic seizures.(5)Although SMEI has a characteristic presentation in childhood, adults with SMEI are underrecognized. To date, there are few data on long-term evolution or the phenotype in adults.(6,7) This study was performed to delineate the adult phenotype of SMEI and SMEB.