早发癫（痫）性脑病的研究进展

Research advances in early-onset epileptic encephalopathy

早发癫（痫）性脑病（early-onset epileptic encephalopathy,EEE）是指一组在新生儿期或婴儿期起病的严重癫（痫）综合征,为药物难治性全面或局灶发作性癫（痫）,脑电图存在频繁而广泛的异常放电,常伴随严重发育迟缓和行为异常.发作间期脑电图改变具有年龄依赖性,并与智力运动发育落后密切相关.EEE主要包括早期肌阵挛脑病、大田原综合征、婴儿严重游走性局灶性癫（痫）、婴儿痉挛症及Dravet综合征.EEE的病因具有异质性,多数仍不明确,对多种抗癫（痫）药物及非药物疗法反应欠佳.EEE预后不良,多数患儿遗留有严重智力运动发育落后,部分甚至存在猝死的风险.

Early-onset epileptic encephalopathy （EEE） represents a group of devastating epileptic disorders that appear in neonatal or infantile period of life,characterized as pharmacoresistant generalized or focal seizures,severe electroencephalography （EEG） abnormalities,mental retardation and behavioral impairments.The interictal epileptic discharges are age-dependent and closely related to cognitive deterioration.EEE includes five epileptic syndromes,which are early myoclonic encephalopathy,ohtahara syndrome,and malignant migrating partial seizures in infancy,West syndrome and Dravet syndrome.The etiologies of EEE are highly heterogeneous,and most of them remain unknown.In many cases with EEE,seizures are resistant to treatment including anti-epileptic drugs and other methods.The prognosis for EEE is poor,and most of the children have severe mental retardation,some even are under the risk of sudden death.