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目的:总结1例泛素样修饰剂活化酶5(n UBA5)基因突变导致发育性癫痫性脑病(DEE)患儿的临床特征及基因突变特点，并进行文献复习。n 方法:回顾性分析2020年3月就诊于徐州医科大学附属徐州儿童医院神经内科的1例DEE患儿的临床特点及基因检测结果。以“癫痫性脑病”“发育性脑病”“Eephalopathy”“Developmental encephalopathy”“UBA5”为关键词，对PubMed、中国知网及万方等国内外数据库从建库至2020年6月相关文献进行检索，并对国内外报道的n UBA5基因突变所致DEE确诊病例进行汇总分析。n 结果:患儿，女，7个月23 d，自4个月开始出现癫痫性痉挛发作，经促皮质素(ACTH)及多种抗癫痫药物未能控制；患儿全面发育落后，身材矮小，小头畸形，面部表情少，易激惹，竖头不稳，不能追视，不能逗笑，四肢肌张力低；全外显子组测序显示患儿n UBA5基因存在一处点突变和基因拷贝数变异(CNV)缺失，其中点突变系父源性c.722A>C(p.E241A)，位于第8号外显子区域，CNV缺失系母源性5-11号外显子区域，构成复合杂合突变。共检索出国外文献5篇(18例患儿)，国内文献0篇，对国外的18例确诊病例和本例汇总分析显示，19例均在婴儿早期出现难治性癫痫发作，发作形式多为癫痫性痉挛发作(63.2%，12/19例)，其次为肌阵挛(31.6%，6/19例)。患儿出生史均无异常，后出现不同程度的发育障碍，主要为小头畸形(94.7%，18/19例)、视觉缺陷(89.5%，17/19例)、身材矮小(94.7%，18/19例)、智力落后(89.5%，17/19例)、运动障碍(84.2%，16/19例)和肌张力低下(100.0%)等，其中大多数(68.4%，13/19例)已死亡。脑电图可呈现正常或者高峰节律紊乱等，其中1例出现暴发抑制。头颅磁共振成像(MRI)主要为不同程度的髓鞘化延迟(47.4%，9/19例)、脑萎缩(52.6%，10/19例)和胼胝体发育不良(26.3%，5/19例)等。n 结论:UBA5基因突变累及的患儿常在婴儿早期出现难治性癫痫发作，发作类型主要为癫痫性痉挛发作；此外还呈现严重的精神运动发育迟滞、小头畸形和肌张力障碍等，预后极差，致死率高；头颅MRI提示不同程度的髓鞘发育不良、脑萎缩和胼胝体发育不良等；对具有以上临床表现的病例，应考虑行基因检测明确诊断。n “,”Objective:To summarize the clinical and gene mutation characteristics of a child with developmental epileptic encephalopathy (DEE) caused by ubiquitin-like modifier-activating enzyme 5(n UBA5 )gene mutation, and to perform literature review.n Methods:Clinical characteristics and genetic test results of a case of DEE treated in Department of Neurology, Xuzhou Children′s Hospital, Xuzhou Medical University, in March 2020 were retrospectively analyzed.Relevant literatures reporting DEE cases caused by n UBA5 gene mutations published before June 2020 were searched in the PubMed, CNKI, Wanfang and other online databases with the following key words: epilepsy encephalopathy, developmental encephalopathy, epileptic encephalopathy, Developmental encephalopathy and UBA5.n Results:A female case with 7 months and 23 days old presented epileptic spasms at 4 months of age, and the condition was uncontrolled by medication of adrenocorticotropic hormone (ACTH) and several antiepileptic drugs.The patient later progressed to recurrent, treatment-resistant seizures with arrested development, short stature, microcephaly, expressionless face, irritability, unsteady head, lack of follow-up vision, lack of laughing, and limb hypotonia.Whole exome sequencing revealed a missense mutation and a microdeletion in the n UBA5 gene, and the missense mutation was paternal c. 722A>C (p.E241A), located in the 8n th exon region.The microdeletion deletion was maternally derived from the 5n th to 11n th exon, which constituted a compound heterozygous mutation.A total of 5 foreign literatures involving 18 children with DEE and 0 domestic literatures were retrieved.Combined with the present case, all 19 cases presented refractory seizures in the early infancy, and most of them were epileptic spasms (63.2%, 12/19 cases), followed by myoclonus (31.6%, 6/19 cases). The birth history of all children was unremarkable, and they later presented developmental disabilities at varying degrees, mainly including microcephaly (94.7%, 18/19 cases), lack of follow-up vision (89.5%, 17/19 cases), and short stature (94.7%, 18/19 cases), intellectual disabilities (89.5%, 17/19 cases), movement disorders (84.2%, 16/19 cases) and hypotonia (100.0%), 13/19 cases (68.4%) died.EEG results mainly revealed normal or hypsarrhythmia, but 1 case presented suppression- burst.Brain magnetic resonance imaging (MRI) findings mainly included delayed myelination (47.4%, 9/19 cases), brain atrophy (52.6%, 10/19 cases), and thin corpus callosum (26.3%, 5/19 cases).n Conclusions:Children with n UBA5 gene mutations often have refractory seizures in the early infancy, which are mainly epileptic spasms.They also show severe psychomotor developmental delay, microcephaly and dystonia, with an extremely poor prognosis.Brain MRI suggested varying degrees of myelin dysplasia, brain trophy, and thin corpus callosum.For cases with the above clinical manifestations, genetic testing should be considered to confirm the diagnosis.n