Gong Pan, Xue Jiao, Jiao Xianru, Zhang Yuehua, Yang Zhixian
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Front Genet. 2021 Apr 8;12:607965. doi: 10.3389/fgene.2021.607965. eCollection 2021.
Recently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.
We performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.
Pathogenic or likely pathogenic variants were identified in 17/74 cases, including ( = 6), ( = 5), ( = 3), ( = 1), ( = 1), and ( = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.
Monogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.
最近，睡眠期癫痫性电持续状态（ESES）的脑电图模式已在一些遗传性疾病中被报道，其中大多数伴有发育性和癫痫性脑病（DEE）或癫痫性脑病（EE）。本研究旨在确定DEE/EE中ESES的遗传病因和临床特征。
我们对伴有ESES的DEE或EE病例进行了队列研究。对74例病例进行了基于二代测序的基因检测，并进行分析以确定潜在变异。
在74例病例中的17例中鉴定出致病或可能致病的变异，包括（ = 6），（ = 5），（ = 3），（ = 1），（ = 1），以及（ = 1）。11例为男性。癫痫发作起始的中位年龄为6个月。ESES发生的平均年龄为2.0±1.2岁，在14岁时主要位于中央区。17例中的12例在ESES之前有不同癫痫的第一阶段：12例中的2例被诊断为大田原综合征，12例中的2例被诊断为婴儿痉挛症，12例中的3例被诊断为DEE，12例中的5例被诊断为无癫痫综合征的EE。
单基因变异解释了超过20%伴有ESES的DEE/EE。ESES可能是遗传性疾病中与年龄相关的特征，并在不同癫痫的第一阶段之后出现。年龄相关因素和遗传病因均被认为在遗传性DEE/EE中ESES的发生中起作用。
