Epilepsy caused by RAB11B gene mutation:A case report
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 RAB11B 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.
国家科技期刊平台
NSTL
万方数据
