葡萄糖转运子-1缺乏综合征一例报告  

A case report of glucose transporter 1 deficiency syndrome

作　　者：王艳萍[1] 华颖[1] 井淼[1] 汤红卫 WANG Yan-ping;HUA Ying;JING Miao;TANG Hong-wei(Department of Neurology,Wuxi Children’s Hospital,Wuxi 214023,China)

机构地区：[1]无锡市儿童医院儿神经内科,214023

出　　处：《天津医药》2020年第8期777-779,共3页Tianjin Medical Journal

基　　金：无锡市卫生健康委科研青年项目(Q201930)。

摘　　要：葡萄糖转运子-1缺乏综合征(GLUT1-DS)是一种临床罕见的常染色体显性遗传性疾病,临床特点为起病年龄早,以反复抽搐发作起病,伴有智力、运动发育落后,行生酮饮食治疗效果好。本文回顾性分析1例我院确诊的GLUT1-DS患儿,采用二代测序癫痫基因检测包发现SLC2A1基因突变,c.164_165delinsTTCA的杂合移码突变,为新发突变。通过基因分析发现的该新发突变丰富了GLUT1-DS基因突变数据库。Glucose transporter-1 deficiency syndrome(GLUT1-DS)is a rare clinical autosomal dominant genetic disease characterized by early onset age,onset of recurrent convulsions,mental and motor retardation,and good effect of ketogenic diet.A case of GLUT1-DS diagnosed in our hospital was analyzed retrospectively.SLC2A1 gene mutation and the heterozygous shift coding mutation of c.164_165 delins TTCA were found by second-generation sequencing of epileptic gene package.A new mutation was found by gene analysis,which enriched GLUT1-DS gene mutation database.

关 键 词：癫痫 葡萄糖转运子-1缺乏综合征 SLC2A1基因 

分 类 号：R725.96.1.1[医药卫生—儿科] R742.1[医药卫生—临床医学]