Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia; Epilepsy Center, University Medical Center, Freiburg, Germany.
Epilepsy Behav. 2019 May;94:308-311. doi: 10.1016/j.yebeh.2019.02.013. Epub 2019 Mar 18.
Eight patients, seven girls and one boy, had CDKL5 gene mutation, duplication, or deletion. Epileptic spasms started at a mean age of 3.5 months (range = 4 weeks-8 months). In five cases, tonic seizures preceded spasms at a median age of 6 weeks. In one patient who started at 8 months, spasms had a component of terror on awakening, reminding sleep terror. In two patients, electroencephalogram polygraphy of a so-called tonic seizure revealed that the tonic phase was followed by an overlooked clonic phase and then by a cluster of spasms during which each spasm was preceded by a brief clonic jerk revealed by electromyography. This sequence is rather particular and can be an early diagnostic clue. Progressive transition from this seizure type to epileptic spasms in clusters seems to result from increasing expression of the CDKL5 gene, as the child grows older. Five patients responded to the combination of vigabatrin and zonisamide.
八名患者，七名女孩和一名男孩，存在 CDKL5 基因突变、重复或缺失。癫痫痉挛发作于平均 3.5 月龄（范围 4 周-8 月）开始。在五例中，痉挛发作前以强直发作为特征，中位年龄 6 周。在一例 8 月龄起病的患者中，痉挛发作在觉醒时有恐怖发作的成分，提示为睡眠恐怖症。在两名患者中，所谓的强直发作的脑电图描记显示，强直期之后是被忽视的阵挛期，随后是一连串痉挛发作，在此期间，每次痉挛发作前通过肌电图显示短暂的阵挛性抽搐。这种序列较为特殊，可能是早期诊断线索。随着患儿年龄的增长，这种发作类型逐渐向簇状癫痫痉挛发作过渡，似乎是由于 CDKL5 基因表达增加所致。五名患者对氨己烯酸和佐米曲普坦联合治疗有反应。
