RAB11B基因突变导致癫痫1例报告  

Epilepsy caused by RAB11B gene mutation:A case report

作　　者：柴莹莹 林文鑫 皇庭庭 郑帼[1] 黄艳军[1] CHAI Ying-ying;LIN Wen-xin;HUANG Ting-ting;HUANG Yan-jun(Department of Neurology,Children's Hospital Affiliated to Nanjing Medical University,Nanjing 210000,China)

机构地区：[1]南京医科大学附属儿童医院神经内科,江苏南京210000

出　　处：《中国实用儿科杂志》2024年第10期792-795,共4页Chinese Journal of Practical Pediatrics

摘　　要：癫痫是由脑部神经元异常放电引起的一种慢性神经系统疾病,其病因复杂多样,其中遗传性因素是原发性癫痫的重要病因,目前已经发现了近30个与癫痫及癫痫综合征相关的致病基因,如SCN1A、KCNA1、KCNQ等。临床中笔者经家系全外显子检测发现了1例癫痫患儿RAB11B基因c.130A>G;p.I44V突变,文章仅对该基因突变导致癫痫1例进行初步探讨。Epilepsy is a chronic neurological disease caused by the abnormal discharge of neurons in the brain,and its etiology is complex and diverse,among which hereditary factors are an important cause of primary epilepsy.At present,nearly 30 pathogenic genes related to epilepsy and epilepsy syndrome have been found,such as SCN1A,KCNA1,KCNQ and so on.In clinical practice,the author found an RAB11 B gene c.130A>G;p.I44V mutation in a child with epilepsy by familial whole exon detection.In this paper,this gene mutation causing epilepsy was preliminarily discussed.

关 键 词：癫痫 RAB11B基因 致病基因 干预 

分 类 号：R72[医药卫生—儿科]