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15 号染色体相关性癫痫综合征诊疗进展

  • 邓亚萍
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  • 重庆医科大学附属儿童医院( 重庆 400014)

收稿日期: 2015-12-15

  网络出版日期: 2015-12-15

Advances of the diagnosis and treatment of epilepsy syndrome linked to chromosome 15 

  • DENG Yaping
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  • Children's Hospital Affiliated to Chongqing Medical University, Chongqing 400014, China

Received date: 2015-12-15

  Online published: 2015-12-15

摘要

 尽管近年来癫痫的诊断及治疗有较大进步,但仍有一些癫痫综合征因病因不明,难以明确诊断与治疗。在众多病因中,遗传因素是目前的研究热点。研究发现多种癫痫综合征与15 号染色体的变异相关,其中包括:Angelman综合征、婴儿痉挛症及儿童失神性癫痫等。文章分别归纳总结上述15 号染色体相关性癫痫的诊断及治疗的进展,以期引发对以上疾病的科研及临床新思维。

本文引用格式

邓亚萍 . 15 号染色体相关性癫痫综合征诊疗进展[J]. 临床儿科杂志, 2015 , 33(12) : 1073 . DOI: 10.3969 j.issn.1000-3606.2015.12.018

Abstract

Recent years, there is a great advance in the diagnosis and treatment of epilepsy, but there are still some kinds of epilepsy syndrome proven difficult to diagnose and manage for unknown etiology. Among etiologies, genetic factors are under intense study. Studies suggested that multiple epilepsy syndromes are correlated to chromosome 15 (15q), including Angelman syndrome, infantile spasms, childhood absence epilepsy, and so on. This article summarizes the research progress in the diagnosis and treatment of epilepsy as described above, expecting to give input for the new thoughts of clinics and research.
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