Chen J Y, Yang Y, Niu X Y, Zhang J, Chen Y, Yang X L, Yang Z X, Jiang Y W, Zhang Y H
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Er Ke Za Zhi. 2021 Sep 2;59(9):767-771. doi: 10.3760/cma.j.cn112140-20210206-00113.
To summarize the genotypes and clinical features of neonatal-onset genetic epilepsy. Patients (114 cases) with identified gene variants were collected from May 2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed. A total of 141 neonatal-onset epilepsy patients with identified gene variants were enrolled, including 76 males and 65 females and involving 33 epilepsy genes. Top five genes were KCNQ2 (56 cases), SCN2A (25 cases), STXBP1 (9 cases), CDKL5 (8 cases) and KCNT1 (6 cases), accounting for 73.8% (104/141). The age of seizure onset was 3(1-28) days of age, 71.6% (101/141) were within 1 week of age. The age of genetic diagnosis was 4 months (1 month to 13 years) of age. A total of 130 patients presented focal seizures; 47 patients presented epileptic spasms. Other seizure types included generalized tonic-clonic seizures, clonic seizures, myoclonic seizures, tonic seizures and absence seizures. Fifty-eight patients experienced multiple seizure types. The results of video-electroencephlogram (VEEG) were abnormal in 127 patients and in 62 patients clinical seizures were captured. Global developmental delay was presented in 122 patients. Epilepsy syndromes were diagnosed in 59 patients. Thirteen patients were diagnosed as Ohtahara syndrome (OS), 9 as epilepsy of infancy with migrating focal seizures (EIMFS), 17 as West syndrome (WS), 4 as OS developed to WS, 9 as benign neonatal epilepsy (BNE), 2 as benign familiar neonatal-infantile epilepsy (BFNIE), 2 as benign infantile epilepsy (BIE) and 3 as benign familial infantile epilepsy (BFIE). Sixty-seven patients were diagnosed as unclassified early infantile epileptic encephalopathy (EIEE), 13 patients could not be diagnosed as any epilepsy syndrome, and 2 patients were diagnosed as pyridoxine-dependent epilepsy. Forty-six patients had abnormal neuroimaging including cortical atrophy, corpus callosum dysplasia and cerebellar atrophy, involving 19 genes. Neonatal-onset epilepsy is related to many different genes. Seizure onset age of most patients is within one week after birth. Focal seizures and epileptic spasms are more common. Some patients show abnormal neuroimaging.
总结新生儿期起病的遗传性癫痫的基因型及临床特征。回顾性收集2013年5月至2019年5月在北京大学第一医院确诊基因变异的患者（114例）。分析其基因型、临床、脑电图及神经影像学特征。共纳入141例确诊基因变异的新生儿期起病癫痫患者，其中男性76例，女性65例，涉及33种癫痫相关基因。前五位的基因分别为KCNQ2（56例）、SCN2A（25例）、STXBP1（9例）、CDKL5（8例）和KCNT1（6例），占73.8%（104/141）。癫痫发作起始年龄为3（1 - 28）天，71.6%（101/141）在1周龄内。基因诊断年龄为4个月（1个月至13岁）。共130例患者出现局灶性发作；47例患者出现癫痫性痉挛。其他发作类型包括全身强直 - 阵挛发作、阵挛发作、肌阵挛发作、强直发作和失神发作。58例患者有多种发作类型。视频脑电图（VEEG）结果显示127例异常，62例记录到临床发作。122例患者存在全面发育迟缓。59例患者诊断为癫痫综合征。13例诊断为大田原综合征（OS），9例为婴儿游走性局灶性癫痫（EIMFS），17例为韦斯特综合征（WS），4例由OS进展为WS，9例为良性新生儿癫痫（BNE），2例为良性家族性新生儿 - 婴儿癫痫（BFNIE），2例为良性婴儿癫痫（BIE），3例为良性家族性婴儿癫痫（BFIE）。67例诊断为未分类的早期婴儿癫痫性脑病（EIEE），13例无法诊断为任何癫痫综合征，2例诊断为维生素B6依赖型癫痫。46例患者神经影像学异常，包括皮质萎缩、胼胝体发育不良和小脑萎缩，涉及19种基因。新生儿期起病的癫痫与多种不同基因相关。多数患者癫痫发作起始年龄在出生后1周内。局灶性发作和癫痫性痉挛较为常见。部分患者神经影像学异常。
