Department of Pediatrics, Chonnam National University Children's Hospital, Gwangju, Republic of Korea.
Department of Pediatrics, 65722Chonnam National University Hwasun Hospital, Hwasun, Republic of Korea.
Sci Prog. 2022 Oct-Dec;105(4):368504221131233. doi: 10.1177/00368504221131233.
Most patients with developmental and epileptic encephalopathy (DEE) have genetic etiology, which has been uncovered with different methods. Although chromosomal microarray analysis (CMA) has been broadly used in patients with DEE, data is still limited.
Among 560 children (<18 years) who underwent CMA in our hospital between January 2013 and June 2021, 146 patients with developmental delay and recurrent seizures were screened. Patients with major brain abnormalities, metabolic abnormalities, and specific syndromes were excluded. The rate of rare copy number variants (CNVs) was estimated in total and according to seizure-onset age, relation to first seizure with the diagnosis of developmental delay, epilepsy syndromes, and organ anomalies.
Among the 110 patients enrolled, the rate of rare CNVs was 16.4%, varying by seizure-onset age: 33.3% in three neonates, 21.2% in 33 infants, 13.3% in 45 early childhood patients, 5.3% in 19 late childhood patients, and 30.0% in 10 adolescents. In relation to the first seizure with the diagnosis of developmental delay, the rates were 3.7%, 22.2%, and 12.5% in "before", "after", and "concurrent" subclasses, respectively. The rates of rare CNVs were 16.7% in "other predominantly focal or multifocal epilepsy", 28.6% in "other predominantly generalized epilepsy (PGE)", and 15.4% in West syndrome. The rates were 27.8% in minor brain anomalies, 37.5% in facial dysmorphism, and 22.2%, 20.0%, and 57.1% in endocrine, genitourinary and cardiovascular anomalies, respectively.
The rate of rare CNVs in patients with genetic DEE was 16.4% in total, which was higher in seizures occurring below the infantile period or after the diagnosis of developmental delay, in PGE, and in the presence of facial dysmorphism or cardiovascular anomalies.
大多数发育性和癫痫性脑病（DEE）患者具有遗传病因，这已经通过不同的方法揭示出来。尽管染色体微阵列分析（CMA）已广泛应用于 DEE 患者，但数据仍然有限。
在 2013 年 1 月至 2021 年 6 月期间，我院对 560 名（<18 岁）接受 CMA 的儿童进行了筛查，其中有 146 名患有发育迟缓且反复癫痫发作的患者。患有主要脑异常、代谢异常和特定综合征的患者被排除在外。根据发病年龄、首次癫痫发作与发育迟缓诊断的关系、癫痫综合征和器官异常，估计罕见拷贝数变异（CNV）的发生率。
在纳入的 110 名患者中，罕见 CNV 的发生率为 16.4%，根据发病年龄而有所不同：3 名新生儿为 33.3%，33 名婴儿为 21.2%，45 名幼儿为 13.3%，19 名晚幼儿为 5.3%，10 名青少年为 30.0%。与首次癫痫发作与发育迟缓诊断的关系方面，“之前”、“之后”和“同时”亚类的发生率分别为 3.7%、22.2%和 12.5%。罕见 CNV 的发生率分别为“其他主要局灶性或多灶性癫痫”为 16.7%、“其他主要全身性癫痫（PGE）”为 28.6%、West 综合征为 15.4%。脑小畸形的发生率为 27.8%，面部畸形的发生率为 37.5%，内分泌、泌尿生殖和心血管畸形的发生率分别为 22.2%、20.0%和 57.1%。
遗传 DEE 患者罕见 CNV 的总发生率为 16.4%，在婴儿期以下或发育迟缓诊断后、PGE 中以及存在面部畸形或心血管异常时发生率更高。
