Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Curr Opin Neurol. 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793.
To review the evolution of the concept of epileptic encephalopathy during the course of past years and analyze how the current definition might impact on both clinical practice and research.
Developmental delay in children with epilepsy could be the expression of the cause, consequence of intense epileptiform activity (seizures and EEG abnormalities), or because of the combination of both factors. Therefore, the current International League Against Epilepsy classification identified three electroclinical entities that are those of developmental encephalopathy, epileptic encephalopathy, and developmental and epileptic encephalopathy (DEE). Many biological pathways could be involved in the pathogenesis of DEEs. DNA repair, transcriptional regulation, axon myelination, metabolite and ion transport, and peroxisomal function could all be involved in DEE. Also, epilepsy and epileptiform discharges might impact on cognition via several mechanisms, although they are not fully understood.
The correct and early identification of cause in DEE might increase the chances of a targeted treatment regimen. Interfering with neurobiological processes of the disease will be the most successful way in order to improve both the cognitive disturbances and epilepsy that are the key features of DEE.
回顾过去几年中癫痫性脑病概念的演变，并分析当前的定义如何影响临床实践和研究。
癫痫儿童的发育迟缓可能是病因的表现，也可能是由于强烈的癫痫样活动（发作和脑电图异常）的后果，或者是由于这两个因素的结合。因此，目前国际抗癫痫联盟将三种电临床实体分类为发育性脑病、癫痫性脑病和发育性和癫痫性脑病（DEE）。许多生物学途径可能参与 DEE 的发病机制。DNA 修复、转录调控、轴突髓鞘形成、代谢物和离子转运以及过氧化物酶体功能都可能参与其中。此外，癫痫和癫痫样放电可能通过多种机制影响认知，但这些机制尚未完全了解。
正确和早期识别 DEE 的病因可能会增加针对性治疗方案的机会。干预疾病的神经生物学过程将是最成功的方法，以改善 DEE 的关键特征，即认知障碍和癫痫。
