国际抗癫痫联盟(ILAE)疾病学和定义工作组提出了新生儿和2岁以下婴儿癫痫发作的癫痫综合征的分类和定义。癫痫的发病率在该年龄组中很高,并且癫痫经常与显著的合并症和死亡率相关。在随机对照试验和精确的发展之后,对综合征特异性抗癫痫药物的许可,基因相关治疗是确定婴儿期发病综合征的电临床表型的两个驱动因素.这项建议的主要目的是,与2017年ILAE癫痫分类一致,是为了支持癫痫诊断,并强调按综合征和病因对个体进行癫痫分类的重要性。对于每种综合症,我们报告流行病学,临床课程,癫痫发作类型,脑电图(EEG),神经影像学,遗传学,和鉴别诊断。综合征分为自限综合征,有可能是自发缓解和发育性和癫痫性脑病,存在发育障碍的疾病与独立于癫痫样活动的潜在病因和癫痫性脑病有关。病因学特异性癫痫综合征的新兴类别,癫痫的特定病因与明确定义有关,相对均匀,和不同的临床表型在大多数受影响的个体以及一致的脑电图,神经影像学,和/或遗传相关因素,是presented。病因学定义的综合征数量将继续增加,这些新描述的综合征将及时纳入这一分类。这些表格总结了强制性功能,警告警报,和常见综合征的排除特征。对实验室确认的资源有限地区的综合征诊断标准给出了指导,包括脑电图,MRI,和基因检测,可能不可用。
The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.