Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker-Sick Children Hospital, Public Hospital Network of Paris, member of EpiCARE, Paris, France.
Epilepsia. 2022 Jun;63(6):1333-1348. doi: 10.1111/epi.17237. Epub 2022 May 3.
Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against Epilepsy (ILAE) classification of epilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitions was established to reach consensus regarding which entities fulfilled criteria for an epilepsy syndrome and to provide definitions for each syndrome. We defined an epilepsy syndrome as "a characteristic cluster of clinical and electroencephalographic features, often supported by specific etiological findings (structural, genetic, metabolic, immune, and infectious)." The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities. This paper describes the guiding principles and process for syndrome identification in both children and adults, and the template of clinical data included for each syndrome. We divided syndromes into typical age at onset, and further characterized them based on seizure and epilepsy types and association with developmental and/or epileptic encephalopathy or progressive neurological deterioration. Definitions for each specific syndrome are contained within the corresponding position papers.
癫痫综合征已被认识超过 50 年,具有不同的电临床表型,具有治疗和预后意义。尽管如此,国际抗癫痫联盟(ILAE)尚未正式接受癫痫综合征分类。为了就哪些实体符合癫痫综合征的标准达成共识,并为每个综合征提供定义,ILAE 分类和定义工作组成立了。我们将癫痫综合征定义为“一组特征性的临床和脑电图特征,通常伴有特定的病因学发现(结构、遗传、代谢、免疫和感染)”。在患有癫痫的个体中诊断出综合征通常具有预后和治疗意义。综合征通常具有年龄依赖性表现和一系列特定的合并症。本文描述了在儿童和成人中识别综合征的指导原则和过程,以及每个综合征包含的临床数据模板。我们根据典型的发病年龄将综合征分为几类,并根据发作和癫痫类型以及与发育和/或癫痫性脑病或进行性神经功能恶化的关联进一步对其进行分类。每个特定综合征的定义都包含在相应的专题论文中。