MULTICENTER STUDY OF IDIOPATHIC GENERALIZED EPILEPSY

特发性全身性癫痫的多中心研究

• 批准号: 6131105
• 负责人: DAVID A. GREENBERG
• 金额: $ 94.32万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-01-01 至 2005-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6131105
• 关键词: adolescence (12-20); blood chemistry; clinical research; cooperative study; disease /disorder classification; disease /disorder onset; electroencephalography; family genetics; gene expression; gene frequency; gene interaction; generalized seizures; genetic markers; genetic polymorphism; genotype; human genetic material tag; human subject; linkage mapping; myoclonus epilepsy; nervous system disorder epidemiology; neurogenetics; polymerase chain reaction; racial /ethnic difference

DESCRIPTION (Applicant's Abstract): This study will identify the loci involved in the expression of idiopathic generalized epilepsy (IGE) and investigate their interactions. In the previous grant period, we: 1) Completed a genome scan for loci of IGE; 2) Discovered at least 4 locations of genes for IGE; 3) Demonstrated and partly resolved heterogeneity in Juvenile Myoclonic Epilepsy (JME); 4) Narrowed the number of candidate loci for EJM1 to seven; 5) Found evidence that JME may be different in Caucasians and non-Caucasians. Pursuing these findings, we have the following aims: 1. Ascertain families with adolescent-onset forms of IGE. 2. Test for linkage heterogeneity at the loci on chromosomes 5, 8, and 18. 3. Test for further evidence of linkage at loci with promising but less significant lod scores on chromosomes 6q and 1. 4. Determine the relationship between genotype and seizure expression, correlating the linkage signal with the seizure types in the families. 5. Test whether non-EJM1 forms of JME map to chromosome 6q. 6. Test whether the frequency of JME due to EJM1 in non-Caucasians is the same as in Caucasians. 7. Determine which of 7 candidate loci is EJM1. 8. Fine-mapping on the candidate regions on chromosomes 5, 8, and 18. The exciting previous results suggest we may now have located many of the genes for adolescent-onset IGE. We will use the linkage and population studies to determine how interactions between the loci influence seizure type and, by eventually determining the actual disease loci, delineate how these loci produce seizures.

描述（申请人的摘要）：本研究将确定所涉及的基因座 在特发性一般性癫痫（IgE）的表达中 他们的互动。在上一个赠款期间，我们：1）完成了一个基因组 扫描Ige基因座； 2）至少发现了4个基因的位置； 3） 在少年肌阵挛性癫痫中证明并部分解决异质性 （JME）; 4）将EJM1的候选基因座数量缩小到7； 5）找到 JME在高加索人和非高加索人中可能有所不同的证据。追求 这些发现，我们有以下目的： 1。确定具有青春期形式的IgE的家庭。 2。链接测试 染色体5、8和18。3的位点的异质性。 基因座连接的证据，具有有希望的LOD得分 染色体6q和1。4。确定基因型和 癫痫发作表达式，将连锁信号与癫痫发作类型相关联 家庭。 5。测试JME的非EJM1形式是否映射到6Q染色体。 6。 测试非高加索人在非高加索人中由于EJM1引起的JME的频率是否与 在高加索人。 7。确定7个候选基因座中的哪个是EJM1。 8。绘制 在染色体5、8和18的候选地区。 结果表明，我们现在可能已经找到了许多青少年发作的基因 Ige。我们将使用联系和人口研究来确定 基因座影响癫痫类型的相互作用，并最终 确定实际疾病基因座，描绘了这些基因座如何产生癫痫发作。