...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Epilepsia: Journal of the International League against Epilepsy >Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32
【24h】

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

机译：与5q31.3-q32相关的吉普赛家族的部分性癫痫综合征

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Summary:Purpose: The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome. Methods: Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroen-cephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplo-type analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affyme-trix SNP 5.0 array data.
机译：摘要：目的：在癫痫研究中很少探讨孟德尔疾病在孤立的创始人群体中的限制性遗传多样性和同质分子基础。我们的长期目标是探索吉卜赛人等这类人群中癫痫的遗传基础。本报告的目的是对患有部分癫痫综合征的吉普赛家族的临床和遗传特征进行描述。方法：使用半结构化访谈对象和信息提供者收集临床信息。对每位患者进行了至少一次发作间脑电图（EEG）记录，并从记录中获得先前的数据。神经影像学包括结构磁共振成像（MRI）。链接和单倍型分析是使用Illumina IVb链接面板进行的，在链接区域和Affyme-trix SNP 5.0阵列数据中补充了高信息量的微卫星。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号