医学
癫痫
肌阵挛性癫痫
癫痫持续状态
儿科
部分性连续性癫痫
粒线体疾病
线粒体脑肌病
乳酸性酸中毒
白质脑病
西方综合征
利氏病
脑病
进行性肌阵挛性癫痫
癫痫痉挛
发作类型
痉挛性四肢瘫
内科学
线粒体DNA
脑瘫
精神科
疾病
化学
基因
生物化学
作者
Xiudi Han,Fengling Fang,H Li,Z M Liu,Yi-yu Shi,J L Wang,Xingxiang Ren,Changhong Ding,C H Chen,J W Li,Wenjin Zhang,Jie Deng
出处
期刊:PubMed
日期:2019-11-02
卷期号:57 (11): 844-851
被引量:8
标识
DOI:10.3760/cma.j.issn.0578-1310.2019.11.006
摘要
The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.
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