Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Epilepsy Res. 2013 Jan;103(1):88-96. doi: 10.1016/j.eplepsyres.2012.07.010. Epub 2012 Jul 21.
We studied clinical and EEG manifestations of absence seizures (AS) in children with Dravet syndrome (DS) to clarify their characteristic features and differences from those of typical AS (TAS). The subjects were 12 children with DS. We retrospectively analyzed electroclinical characteristics of AS. We analyzed a total of 102 ictal EEGs characterized by generalized spike-and-wave (GSW) and semiology of 78 video-taped AS. The mean age at the onset of AS and at the time of the study was 16.2±7.1 months and 40.3±22.1 months, respectively. Ictal EEG showed the focality of initial discharge in 49/102 (48%), a duration ranging from 2 to 180 s (mean: 10.2±22.6 s; median: 4.0 s), frequency ranging from 2 to 4 Hz (median=3.0 Hz), and irregular and disorganized GSW morphology in 66/102 (65%). AS manifested with eyelid-myoclonus and generalized myoclonus in 9/54 (17%) and 34/78 (44%), respectively. In conclusion, AS in DS were characterized by an early-onset age, a high incidence of irregular and disorganized 3 Hz GSW morphology, and the frequent association of generalized myoclonic movement as well as the absence of automatism as compared to TAS. The results should be appreciated in the differential diagnosis of early-onset AS, the treatment of AS in DS and also a further clinical and genetic study for DS.
我们研究了患有德拉维特综合征（DS）的儿童的失神发作（AS）的临床和 EEG 表现，以阐明其特征和与典型 AS（TAS）的差异。研究对象为 12 名患有 DS 的儿童。我们回顾性分析了 AS 的电临床特征。我们分析了总共 102 例具有全身性棘慢波（GSW）和 78 例视频记录的 AS 半影的发作期 EEG。AS 的发病年龄和研究时的平均年龄分别为 16.2±7.1 个月和 40.3±22.1 个月。102 例发作期 EEG 中 49/102（48%）显示起始放电局灶性，持续时间为 2 至 180 秒（平均：10.2±22.6 秒；中位数：4.0 秒），频率为 2 至 4 Hz（中位数=3.0 Hz），66/102（65%）显示不规则和紊乱的 GSW 形态。9/54（17%）和 34/78（44%）的 AS 分别表现为眼睑肌阵挛和全身性肌阵挛。总之，与 TAS 相比，DS 中的 AS 具有发病年龄早、不规则和紊乱的 3 Hz GSW 形态发生率高、全身性肌阵挛运动频繁且无自动症的特征。这些结果在鉴别早发性 AS 的诊断、DS 中 AS 的治疗以及进一步的临床和遗传学研究中应得到重视。
