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• W3158760393 abstract "Objective: To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding. Methods: 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. Results: 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 (U=436.500, P=0.044). Conclusions: 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.目的： 探讨0~6月龄婴儿期早发癫痫的病因，提高临床认识。 方法： 收集2017年1月至2018年12月于首都医科大学附属北京儿童医院神经科病房住院的6月龄以内发病的340例癫痫患儿，回顾性分析病史、脑电图、头颅影像、遗传学检查等资料，应用秩和检验比较不同病因的发病年龄。 结果： 340例患儿中男196例、女144例，发病年龄为90.5（48.0，135.5）日龄。250例（73.5%）患儿进行了基因检测，其中103例（41.2%）发现致病性或可疑致病性变异，涉及43个单基因变异及2例染色体异常。340例患儿的癫痫病因中，遗传性因素79例（23.2%），结构性因素66例（19.4%），代谢性因素19例（5.6%），多重因素13例（3.8%），病因未明163例（47.9%）。79例遗传性病因涉及30个单基因变异，包括PRRT2 19例、KCNQ2 10例、SCN1A 7例、SCN2A 6例、STXBP1 6例、CDKL5 5例、ARX 2例，另23个基因变异各1例；2例染色体异常分别为21-三体及16p11.2微缺失综合征。66例结构性病因中围生期脑损伤等后天因素37例，皮质发育畸形等先天因素28例，围生期脑损伤合并巨脑畸形1例。遗传性病因患儿发病年龄为95（26，128）日龄，结构性病因发病年龄为90（58，130）日龄，代谢性病因发病年龄为57（30，90）日龄。代谢性病因患儿发病年龄早于结构性病因（U=436.500，P=0.044）。 结论： 0~6月龄婴儿期早发癫痫的明确病因中以遗传性因素最常见，不同病因发病年龄存在一定差异。合理地开展基因检测有助于及时明确病因、指导治疗。." @default.
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• W3158760393 date "2021-05-02" @default.
• W3158760393 modified "2023-10-18" @default.
• W3158760393 title "[The etiology of 340 infants with early-onset epilepsy]." @default.
• W3158760393 doi "https://doi.org/10.3760/cma.j.cn112140-20201016-00947" @default.
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