Lai Chong-Yuan, Chen Rui-Hua, Zhong Chun-Lan, Ji Ming-Ming, Li Bing-Fei
Center of Epilepsy Diagnosis and Treatment, Department of Pediatric Neurology, Ganzhou Maternal and Child Health Care Hospital, Ganzhou, Jiangxi 341000, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2022 May 15;24(5):585-590. doi: 10.7499/j.issn.1008-8830.2111110.
To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.
The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.
The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and in the other children.
16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.
研究儿童16p11.2微缺失相关癫痫的临床表型及遗传特征。
回顾性收集200例接受全外显子测序技术进行癫痫基因分析的癫痫患儿的医学资料，其中9例癫痫患儿存在16p11.2微缺失。对9例16p11.2微缺失患儿的临床表型及遗传特征进行分析。
16p11.2微缺失的检出率为4.5%（9/200）。9例16p11.2微缺失患儿年龄为3 - 10个月。发作类型为伴有意识障碍的局灶性运动性发作，部分发作进展为全面性强直 - 阵挛发作。发作间期脑电图表现为局灶性或多灶性癫痫样放电，9例患儿对抗癫痫药物反应良好。9例患儿16p11.2缺失片段大小为398 - 906 kb，缺失基因数量为23 - 33个，均为致病突变。2例患儿突变来自母亲，1例来自父亲，其余未提及。
部分癫痫患儿可检测到16p11.2微缺失。16p11.2微缺失多为突变及大片段基因缺失。儿童16p11.2微缺失相关癫痫多在1岁内起病，且癫痫对药物敏感。
