KCNQ2突变所致大田原综合征2例报告及文献复习  

Ohtahara syndrome caused by the KCNQ2 mutation: report of 2 cases and review of the related literature.

作　　者：白薇[1] 王爽[1] 

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《中国实用儿科杂志》2015年第9期705-709,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的探讨KCNQ2基因突变与大田原综合征(OS)的关系。方法 2014年10月北京大学第一医院儿科收治的2例OS伴KCNQ2基因突变患儿临床资料进行回顾性分析,并查阅万方、中国知网(CNKI)、Pub Med、Uptodate等数据库,结合相关文献进行总结。结果所报道患儿均于生后24 h内起病,临床及电生理诊断为OS,逐渐转型为West综合征。辅助检查血生化、头颅磁共振成像、代谢等结果未见明显异常。癫痫基因检测发现KCNQ2基因有新发错义突变,而该基因突变既往文献曾有报道可引起早发癫痫脑病。结论 KCNQ2基因突变不仅可以引起良性家族性新生儿癫痫(BFNE),新发突变更可能是部分早发癫痫脑病如OS的致病基因。Objective To explore the relationship between KCNQ2 mutation and Ohtahara syndrome. Methods The clinical data collected from two cases of Ohtahara syndrome with the KCNQ2 mutation were analyzed retrospectively, and the related literature from database of Wanfang, CNKI, PubMed and Uptodate were to reviewed. Results The onset time of the patients＇ seizures were within 24 hours after birth, and the epileptic spasm and burst-suppression pattern were detected by video electroencephalo graphy, VEEG.The patients were diagnosed with Ohtahara syndrome, and tran- sited to the West syndrome.There were no obvious abnormalities in the biochemical, MRI examination and metabolism screening tests of urine and blood.Epilepsy-related genes were tested, and de novo missense mutations of KCNQ2 gene were found.This mutation has been reported to cause early onset of epileptic encephalopathy （EOEE） before. Conclu- sion The KCNQ2 mutation that has been found in benign familial neonatal epilepsy, now is considered to play an important role in the etiology of EOEE （including Ohtahara syndrome）, especially the de novo mutations.

关 键 词：早发癫痫脑病 大田原综合征 KCNQ2基因 新发突变 

分 类 号：R72[医药卫生—儿科]