2021 年第 7 期 第 16 卷

基因变异所致早发癫性脑病患儿临床特点及相关基因表型的临床分析

Clinical characteristics and related gene phenotypes of early infantile epileptic encephalopathy children caused by genetic variation

作者：郭玮1郁莉斐2蒋丽军1李清峰1

英文作者：Guo Wei1 Yu Lifei2 Jiang Lijun1 Li Qingfeng1

单位：1扬州大学附属医院儿科 225001； 2复旦大学附属儿科医院神经内科，上海 201102

英文单位：1Department of Pediatrics Affiliated Hospital of Yangzhou University Jiangsu Province Yangzhou 225001 China; 2Department of Neurology the Children′s Hospital of Fudan University Shanghai 201102 China

关键词：早发癫性脑病；基因变异；临床特点；基因表型宋体

英文关键词：Earlyinfantileepilepticencephalopathy;Genevariation;Clinicalcharacteristics;Genephenotypes

• 摘要：

• 目的 分析基因变异所致早发癫性脑病（EIEE）患儿的临床特点及相关基因表型，指导EIEE的早期诊断、治疗、预后及遗传咨询。方法 收集2017年3月至2018年2月在复旦大学附属儿科医院诊断为基因变异所致EIEE的14例患儿的临床资料，包含年龄、性别、临床表现、脑电图和头颅磁共振成像表现、基因表型等，并对其临床资料进行总结归纳。结果 EIEE起病年龄小，癫发作类型多样，发育落后，治疗困难，脑电图严重异常，可导致相应的癫综合征出现。检出基因类型为Dravet综合征：SCN2A 1例、SCN1A 3例；婴儿痉挛症：GABRA1、ARX、ALG13各1例；尚未明确命名的非综合征性EIEE：CDKL5、STXBP1、KCNQ2、SCN2A、KCNA2、CACNA1A、SLC9A6各1例。结论 EIEE患儿癫发作类型多样，发育落后，应及早完善基因筛查，以指导治疗和预后及遗传咨询，从而加强优生优育，减轻家庭及社会负担。

• Objective To analyze the clinical characteristics and related gene phenotypes of early infantile epileptic encephalopathy(EIEE) children caused by genetic variation, so as to guide the early diagnosis, treatment, prognosis and genetic counseling of EIEE. Methods The clinical data of 14 children diagnosed as EIEE caused by genetic variation in the Children′s Hospital of Fudan University from March 2017 to February 2018 were collected. The clinical data such as age, gender, clinical features, electroencephalogram, cranial magnetic resonance imaging manifestations, and genetic phenotypes were summarized and generalized. Results EIEE had a young age of onset, diverse epileptic seizure types, backward development, difficult treatment, and serious abnormal electroencephalogram, which could lead to the occurrence of corresponding epileptic syndrome. The detection genetypes including Dravet syndrome: 1 case of SCN2A, 3 cases of SCN1A; infantile spasm: 1 case each of GABRA1, ARX and ALG13; other non syndromic EIEE not been clearly named: 1 case each of CDKL5, STXBP1, KCNQ2, SCN2A, KCNA2, CACNA1A and SLC9A6. Conclusions Children with EIEE have various types of seizures and are underdeveloped. It is necessary to improve gene detection as early as possible to guide the treatment, prognosis and genetic counseling, so as to enhance bear and rear better children and ease the burden of family and society.