颞叶癫痫的遗传学研究进展。

Epilepsy research and treatment Pub Date : 2012-01-01 Epub Date: 2012-02-19 DOI:10.1155/2012/863702
Annick Salzmann, Alain Malafosse
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引用次数: 30

摘要

颞叶癫痫(TLE)通常被认为是一种多基因的复杂疾病。为了了解其遗传成分,自九十年代中期以来,对家族形式进行了大量的连锁分析,并对病例与对照进行了关联研究。本文列出了从最初的分离分析到2011年5月发表的最新结果的遗传发现。迄今为止,尽管人们做了很多努力,但还没有明确的基因与TLE相关。然而,至关重要的是继续进行复制研究和合作尝试,以找到重要的结果,从而确定哪种基因变异组合在TLE的病因学中起决定性作用。
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Genetics of temporal lobe epilepsy: a review.

Temporal lobe epilepsy (TLE) is usually regarded as a polygenic and complex disorder. To understand its genetic component, numerous linkage analyses of familial forms and association studies of cases versus controls have been conducted since the middle of the nineties. The present paper lists genetic findings for TLE from the initial segregation analysis to the most recent results published in May 2011. To date, no genes have been clearly related to TLE despite many efforts to do so. However, it is vital to continue replication studies and collaborative attempts to find significant results and thus determine which gene variant combination plays a definitive role in the aetiology of TLE.

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