| 癫痫的分子遗传学研究进展 |
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| 引用本文： | 唐北沙,张玉虎. 癫痫的分子遗传学研究进展[J]. 中华医学遗传学杂志, 2002, 19(6): 505-507 |
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| 作者姓名： | 唐北沙 张玉虎 |
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| 作者单位： | 410008,长沙,中南大学湘雅医院神经内科 |
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| 摘 要： | 癫痫是常见的神经系统疾病，遗传因素在癫痫的发生中起一定作用。近几年来，已经确定了几种特发性癫痫的相关基因定位及基因克隆，并对一些基因产物功能进行了研究，就近年研究的特发性癫痫类型及基因定位。基因突变检测与发病机理研究的进展作一综述。
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| 关 键 词： | 癫痫 分子遗传学 研究进展 基因定位 染色体突变 |
| 修稿时间： | 2001-11-08 |
Progress in molecular genetics of epilepsy |
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| TANG Beisha,ZHANG Yuhu.. Progress in molecular genetics of epilepsy[J]. Chinese journal of medical genetics, 2002, 19(6): 505-507 |
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| Authors: | TANG Beisha ZHANG Yuhu. |
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| Affiliation: | Department of Neurology, Xiangya Hospital, Central-South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn |
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| Abstract: | Epilepsy is a group of disorders characterized by recurrent seizures.The etiologies of idiopathic epilepsy commonly have a genetic basis. Gene mutations causing several of the inherited epilepsies have been mapped. In this review, the authors summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability and gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function. |
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| Keywords: | epilepsy gene mapping chromosome mutation |
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