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Nonsyndromic seizure disorders: epilepsy and the use of the internet to advance research.
Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2003-10-07 , DOI: 10.1146/annurev.genom.4.071902.102155
Mark F Leppert 1 , Nanda A Singh
Affiliation  

The progress in understanding the genetics of nonsyndromic epilepsy is the direct result of dramatic advances made by the Human Genome Project. The development of thousands of precisely mapped genetic markers and the nearly complete sequencing of the entire human genome in 2001 allowed genetic researchers in epilepsy to identify many loci and genes as causal in inherited idiopathic epilepsy. This substantial increase in information has required the development of accurate and online bioinformatic databases. Only the Internet can enable such large amounts of precise DNA sequence information to be transferred to researchers. Along with the construction of these databases has been the development of efficient search algorithms for specific DNA sequences and genetic information. This article summarizes the effect that this burst of new genomic information has had on research aimed at discovering the underlying genetic factors for nonsyndromic epilepsy. Many of the web sites important to epilepsy gene discovery are listed and discussed in this article, including sites with extensive information on genetic markers, genetic analysis, gene sequence, gene expression, gene mutations, and DNA sequence variation. Continued acquisition of information on naturally occurring DNA sequence variants will greatly help research directed towards understanding the genetic susceptibility of the common, nonsyndromic epilepsies and will lead to the promise of personalized medicine.

中文翻译:

非综合征性癫痫发作:癫痫病和利用互联网推进研究。

对非综合征性癫痫的遗传学的了解是人类基因组计划取得巨大进展的直接结果。2001年,成千上万种精确定位的遗传标记的发展以及整个人类基因组的近乎完整的测序,使癫痫病的遗传研究人员得以鉴定出许多基因位点和基因是遗传性特发性癫痫病的病因。信息的大量增加要求开发准确的在线生物信息数据库。只有Internet才能将如此大量的精确DNA序列信息传递给研究人员。除了这些数据库的构建以外,还针对特定的DNA序列和遗传信息开发了有效的搜索算法。本文总结了这种新的基因组信息对研究的影响,该发现旨在发现非综合征性癫痫的潜在遗传因素。本文列出并讨论了许多对癫痫基因发现重要的网站,其中包括有关遗传标记,遗传分析,基因序列,基因表达,基因突变和DNA序列变异的广泛信息。继续获取有关天然存在的DNA序列变异体的信息将极大地有助于旨在了解常见的非综合征性癫痫的遗传易感性的研究,并将带来个性化医学的希望。本文列出并讨论了许多对癫痫基因发现重要的网站,其中包括有关遗传标记,遗传分析,基因序列,基因表达,基因突变和DNA序列变异的广泛信息。继续获取有关天然存在的DNA序列变异体的信息将极大地有助于旨在了解常见的非综合征性癫痫的遗传易感性的研究,并将带来个性化医学的希望。本文列出并讨论了许多对癫痫基因发现重要的网站,其中包括有关遗传标记,遗传分析,基因序列,基因表达,基因突变和DNA序列变异的广泛信息。继续获取有关天然存在的DNA序列变异体的信息将极大地有助于旨在了解常见的非综合征性癫痫的遗传易感性的研究,并将带来个性化医学的希望。
更新日期:2019-11-01
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