Song T Y, Deng J, Fang F, Chen C H, Wang X H, Wang X, Zhuo X W, Dai L F, Wang H M, Tian X J
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Zhonghua Er Ke Za Zhi. 2021 May 2;59(5):387-392. doi: 10.3760/cma.j.cn112140-20201016-00947.
To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding. The medical history, electroencephalogram, brain imaging, genetic examination and other clinical data of 340 patients who were diagnosed with epilepsy with onset under 6 months of age and were hospitalized in the Department of Neurology, Beijing Children's Hospital, Capital Medical University between January 2017 and December 2018 were retrospectively analyzed. Rank sum test was used to compare the ages of onset of different etiologic groups. Of the 340 patients, 196 were males and 144 were females. The age of onset was 90.5 (48.0, 135.5) days. In the 250 (73.5%) underwent genetic test, 103 (41.2%) had pathogenic or likely pathogenic variants, involving 43 single gene variants and 2 chromosomal abnormalities. Seventy-nine patients (23.2%) had genetic etiology, 66 (19.4%) had structural etiology, 19 (5.6%) had metabolic etiology, 13 (3.8%) had multiple etiologies, and 163 (47.9%) had unknown etiology. In the 79 cases with genetic etiology, 30 single gene variants were detected, including 19 cases of PRRT2, 10 cases of KCNQ2, 7 cases of SCN1A, 6 cases of SCN2A, 6 cases of STXBP1, 5 cases of CDKL5, 2 cases of ARX, and 1 case of each of 23 gene variants. Two cases had chromosomal abnormalities which were 21-trisomy and 16p11.2 microdeletion syndrome respectively. Among the 66 cases with structural etiologies, 37 cases had acquired factors such as perinatal brain injury, 28 cases had congenital factors such as cortical malformation and 1 case was perinatal brain injury combined megalencephaly. The onset age of genetic etiology was 95 (26, 128) days, that of structural etiology was 90 (58, 30) days, and that of metabolic etiology was 57 (30, 90) days. The onset age of metabolic etiology was earlier than that of structural etiology (=436.500, =0.044). Genetic etiology is the most common defined etiology of infants with early-onset epilepsy aged 0-6 months, and there are certain differences in the age of onset between different etiologies. Proper application of genetic test is helpful to identify the etiology and guide treatment.
为探讨6个月龄前癫痫发作的病因并提高临床认识。回顾性分析2017年1月至2018年12月在首都医科大学附属北京儿童医院神经内科住院的340例6个月龄以下癫痫发作患儿的病史、脑电图、脑影像学、基因检测等临床资料。采用秩和检验比较不同病因组的发病年龄。340例患儿中，男196例，女144例。发病年龄为90.5（48.0，135.5）天。250例（73.5%）接受了基因检测，其中103例（41.2%）有致病或可能致病的变异，涉及43个单基因变异和2种染色体异常。79例（23.2%）有遗传病因，66例（19.4%）有结构病因，19例（5.6%）有代谢病因，13例（3.8%）有多种病因，163例（47.9%）病因不明。在79例有遗传病因的病例中，检测到30个单基因变异，包括19例PRRT2、10例KCNQ2、7例SCN1A、6例SCN2A、6例STXBP1、5例CDKL5、2例ARX以及23个基因变异各1例。2例有染色体异常，分别为21-三体和16p11.2微缺失综合征。在66例有结构病因的病例中，37例有围生期脑损伤等后天因素，28例有皮质发育畸形等先天因素，1例为围生期脑损伤合并巨脑症。遗传病因组的发病年龄为95（26，128）天，结构病因组为90（58，30）天，代谢病因组为57（30，90）天。代谢病因组的发病年龄早于结构病因组（=436.500，=0.044）。遗传病因是0-6个月龄早发性癫痫婴儿最常见的明确病因，不同病因的发病年龄存在一定差异。合理应用基因检测有助于明确病因并指导治疗。
