| 郑明雪,李秋波.遗传代谢性疾病与癫痫[J].济宁医学院学报,2021,44(6):437-441 |
| 遗传代谢性疾病与癫痫 |
| Epilepsy and inherited metabolic disorders |
| 投稿时间：2021-04-19 |
| DOI：10.3969/j.issn.1000-9760.2021.06.014 |
| 中文关键词: 遗传代谢病;癫痫;机制 |
| 英文关键词: Inheritedmetabolic disorders;Epilepsy;Mechanism |
| 基金项目:山东省自然科学基金项目（ZR2019MH060） |
| 作者 | 单位 | E-mail | | 郑明雪 | 济宁医学院临床医学院, 济宁 272013
济宁医学院附属医院, 济宁 272029 | | | 李秋波 | 济宁医学院临床医学院, 济宁 272013
济宁医学院附属医院, 济宁 272029 | Lqb0072@126.com |
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| 中文摘要: |
| 癫痫是小儿神经科的常见疾病,遗传代谢病(inherited metabolic disorders,IMD)是获得性癫痫的病因之一。先天性IMD种类繁多,许多代谢疾病可能伴有癫痫发作。早期癫痫发作与IMD密切相关,目前IMD引起癫痫发作的机制尚不完全明确。已有研究表明超过200种不同的先天性IMD与癫痫发作相关,其中主要包括有机酸血症,高氨血症,糖代谢紊乱,氨基酸代谢紊乱,线粒体病等。 |
| 英文摘要: |
| Epilepsy is a common disease in pediatrics,and Inherited Metabolic Disorders(IMD) is one of the causes of septic epilepsy.There are congenital genetic metabolic diseases of various kinds,and many metabolic diseases may be accompanied by seizures.Early seizures are closely related to genetic metabolic diseases,but the current mechanism of these diseases is still not yet completely clear.Studies have shown that more than 200 different congenital genetic metabolic diseases are related to epilepsy,including organic acidemia,hyperammonemia,Glycometabolic disorder,amino acid metabolism disorder,mitochondrial disease,etc. |
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