GENETIC STUDY OF STATUS EPILEPTICUS IN TWINS

双胞胎癫痫持续状态的遗传学研究

• 批准号: 6112296
• 负责人: Linda A. Corey
• 金额: --
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-06-01 至 1999-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6112296
• 关键词: Scandinavian country; United States; disease /disorder classification; disease /disorder proneness /risk; dizygotic twins; electroencephalography; epilepsy; family genetics; genetic disorder; genotype; health surveys; human subject; information systems; medical records; monozygotic twins; nervous system disorder epidemiology; patient /disease registry; polymerase chain reaction; questionnaires; twin /multiplet

While the existence of a familial aggregation of seizures and epileptic syndromes has been well established, a need for more definitive studies that address the nature of the factors responsible for the observed pattern of familial aggregation clearly exists. Twin and twin kinship studies provide extremely powerful tools for measuring the importance of genetic influences on a trait, as well as, differentiating between alternative explanations for observed patterns of inheritance. The objectives of the proposed study are to determine the degree to which genetic factors play a significant role in the etiology of febrile seizures and epilepsy and to ascertain the extent to which maternal effects contribute to the predisposition to these disorders utilizing information collected from affected and control twin pairs and twin kinships who were ascertained through the Virginia or Norwegian Twin Registries. These population-based panels will provide the largest sample of affected twins that has been studied to date. A preliminary survey of the health history information available on registry members has indicated that there are currently 210 twin pairs reporting epilepsy or febrile seizures available for study in Virginia along with 320 pairs in Norway. In addition, 403 kinships in which febrile seizure is reported in the offspring of twins are included in the Norwegian panel, along with, an estimated 160 in the Virginia group. Both twin registries will be resurveyed for the occurrence of seizure disorders in twins using a questionnaire specifically developed or this purpose. Classical twin studies will be used to determine the role which genetic factors play in the etiology of seizure disorders. Case and control twin pairs will be evaluated to examine the effects of demographic variables on the incidence of the traits under study. Finally, twin kinship studies will be used to detect the influence of maternal effects on the occurrence of seizure disorders.

而家族性癫痫的存在和 癫痫综合征已经建立了很好的建立，需要更多 确定因素性质的确定性研究 负责观察到的家族聚集模式 显然存在。 双胞胎和双亲属研究提供了极为极端的 衡量遗传影响重要性的强大工具 在特征以及区分替代方案 观察到的继承模式的解释。 目标 拟议的研究是确定遗传的程度 因素在发热性癫痫发作的病因中起着重要作用 和癫痫病，并确定母体影响的程度 有助于对这些疾病的倾向 从受影响和控制双子对和双胞胎中收集的信息 通过弗吉尼亚州或挪威人确定的亲属关系 双登记处。 这些基于人群的小组将提供 迄今已研究的最大受影响双胞胎样本。 可用的健康历史信息的初步调查 注册表成员表示目前有210个双胞胎 对可用于研究的癫痫或发热性癫痫发作的对成对 在弗吉尼亚州以及挪威的320对。 另外，403 报道了发热癫痫发作的亲属关系 双胞胎包含在挪威小组中，估计 弗吉尼亚集团160。 两个双胞胎注册机构都将重新审查 对于双胞胎中的癫痫发作疾病，使用 问卷是专门开发的或目的。 古典 双胞胎研究将用于确定哪种遗传 因素在癫痫发作的病因中发挥作用。 案件和 将评估控制双胞胎对，以检查 人口统计学变量在研究性状的发生率上。 最后，将使用双亲属研究来检测影响 孕产妇对癫痫发作的发生的影响。