癫痫杂志

癫痫杂志

PIGA 基因突变所致早发性癫痫性脑病一例

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目的探讨 PIGA 基因突变与早发性癫痫性脑病(Early-onset epileptic encephalopathies,EOEE)的关系。方法回顾分析 2016 年 3 月广东三九脑科医院癫痫中心收治的 1 例 EOEE 伴 PIGA 基因突变患儿临床资料,并查阅万方、中国知网(CNKI)、PubMed 等数据库,结合相关文献进行总结。结果所报道患儿 1 岁内起病,有癫痫家族史,电生理及临床诊断为 EOEE,辅助检查遗传代谢、尿有机酸、血生化等检测未见异常,头颅核磁共振示大脑发育不全。癫痫基因检测发现 PIGA 基因有新发错义突变,符合 X 连锁遗传方式,而该基因突变导致 EOEE在国外相关文献中已有报道,但国内罕有相关报道。结论X 连锁 PIGA 基因新发突变更可能是部分 EOEE 的致病基因。

ObjectiveTo investigate the relationship between PIGA gene mutation and early-onset epileptic encephalopathy (EOEE).MethodsThe clinical materials of a EOEE children with PIGA gene mutation who admitted to Guangdong Sanjiu Brain Hosipital Epilepsy Pediatric in March 2016 were retrospectively analyzed. The databases of Wanfang, CNKI and PubMed were also reviewed to give a summary.ResultsThe child’s onset age was before 1-year-old, who has a family history of epilepsy. Electrophysiological and clinical diagnosis were EOEE, auxiliary examination of genetic metabolism, urine organic acids, blood biochemistry and other tests showed no abnormalities. Epilepsy gene detection found that PIGA gene has a new missense mutation, in line with the X-linked inheritance. The mutations leading to EOEE has been reported in foreign literature, but rarely reported in China.ConclusionThe new mutations of X-linked PIGA gene are more likely to be the causative genes of some.

关键词: 早发癫痫脑病; PIGA 基因; 新发突变

Key words: Early onset epileptic encephalopathy; PIGA gene; New mutation

引用本文: 彭凯, 李花, 欧阳梅. PIGA 基因突变所致早发性癫痫性脑病一例 . 癫痫杂志, 2018, 4(4): 314-318. doi: 10.7507/2096-0247.20180051 复制

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