Abstract：
We summarize the copy number variations (CNVs) and phenotype spectrum of infantile epileptic spasms syndrome (IESS) in a Chinese cohort. The CNVs were identified by genomic copy number variation sequencing. The CNVs and clinical data were analyzed. 74 IESS children with CNVs were enrolled. 35 kinds of CNVs were identified. There were 11 deletions and 5 duplications not reported previously in IESS, including 2 CNVs not reported in epilepsy. 87.8% were de novo, 9.5% were inherited from mother and 2.7% from father. Mosaicism occurred in one patient with Xq21.31q25 duplication. 16.2% (12/74) were 1p36 deletion, and 20.3% (15/74) were 15q11-q13 duplication. The age of seizure onset ranged from 17 days to 24 months. Seizure types included epileptic spasms, focal seizures, tonic seizures, and myoclonic seizures. All patients displayed developmental delay. Additional features included craniofacial anomaly, microcephaly, congenital heart defects, and hemangioma. 29.7% of patients were seizure-free for more than 12 months, and 70.3% still had seizures after trying 2 or more anti-seizure medications. In conclusion, CNVs is a prominent etiology of IESS. 1p36 deletion and 15q duplication occurred most frequently. CNV detection should be performed in patients with IESS of unknown causes, especially in children with craniofacial anomalies and microcephaly.
摘要：
我们总结了中国队列中婴儿癫痫性痉挛综合征（IESS）的拷贝数变异（CNVs）和表型谱。通过基因组拷贝数变异测序鉴定CNV。分析CNV和临床数据。纳入74名患有CNV的IESS儿童。鉴定了35种CNVs。有11个删除和5个重复之前没有在IESS中报告，包括2个未在癫痫中报告的CNVs。87.8%为从头，9.5％是从母亲继承的，2.7％是从父亲继承的。1例Xq21.31q25重复患者发生镶嵌现象。16.2%(12/74)为1p36缺失,20.3%(15/74)为15q11-q13重复。癫痫发作的年龄为17天至24个月。癫痫发作类型包括癫痫性痉挛，局灶性癫痫发作,强直性癫痫发作,和肌阵挛性癫痫发作。所有患者均表现出发育迟缓。其他特征包括颅面异常，小头畸形,先天性心脏缺陷,和血管瘤.29.7%的患者12个月以上无癫痫发作,70.3%在尝试2种或更多种抗癫痫药物后仍有癫痫发作。总之,CNV是IESS的突出病因。1p36缺失和15q重复发生最频繁。CNV检测应在不明原因的IESS患者中进行，尤其是颅面畸形和小头畸形的儿童。
