GENETIC EPIDEMIOLOGY OF SEIZURES--A TWIN STUDY

癫痫发作的遗传流行病学——双胞胎研究

• 批准号: 2269496
• 负责人: Linda A. Corey
• 金额: $ 60.4万
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-05-01 至 1999-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2269496
• 关键词: adolescence (12-20); child (0-11); congenital skeletal disorder; data collection methodology /evaluation; disease /disorder proneness /risk; epidemiology; epilepsy; family genetics; febrile seizure; gender difference; genotype; human genetic material tag; human subject; medical complication; nucleic acid hybridization; nucleic acid probes; patient /disease registry; phenotype; questionnaires; southern blotting; statistics /biometry; twin /multiplet; ultraviolet spectrometry

Recent advances in the neurosciences, in seizure classification procedures and in genetic methodologies have provided important new tools for elucidating the importance of genetic, maternal and environmental factors in risk for epilepsy. While it has been possible to conclusively demonstrate that genetic factors influence seizure susceptibility in three forms of epilepsy (benign neonatal, juvenile myoclonic and progressive myoclonus), the contribution of genotype to seizure risk for most forms of epilepsy is unknown. Objectives of the proposed study are to identify and resolve the roles of genetic, maternal and environmental factors in the etiology of seizures and specific epileptic syndromes and to examine the role of the epilepsy phenotype in risk for congenital malformations among offspring of seizure-affected individuals utilizing data on seizure history and history of congenital malformations among the offspring of twin pairs included in the population-based Virginia Twin Registry and Norwegian Twin Panel. These registries, developed from vital records, currently contain information on over 21 ,000 adult twin pairs and their families. The proposed study will focus on the over 800 adult twin pairs reporting seizures in one or both pair members, the estimated 350 young twins to be identified by surveying their parents, the over 800 twin kindreds reporting seizures in one or more offspring of twins but not in the twins themselves and a group of age, sex, race, and zygosity matched controls. Data pertinent to the occurrence of seizures in controls and to the occurrence and type of seizures occurring in affected individuals will be collected for analysis. Detailed information on reproductive history in affected twin pairs, including that on congenital malformations in offspring will also be collected. Cases will be coded for family membership and validated using medical records. Coded cases will be classified for seizure/epilepsy type using the International Classifications of Seizures and of Epilepsy and Epileptic Syndromes. The unique family structure of the data set to be collected will permit the use of several different methodological approaches in evaluating the hypotheses put forth in this study. Standard epidemiologic methods will be used to examine the role of specific demographic factors on seizure occurrence. The importance of genetic and maternal factors in determining risk for epilepsy and specific epileptic syndromes and the role of the epilepsy phenotype in risk for congenital malformations in offspring will be assessed using classical twin and cotwin control studies. Logistic regression techniques will be used in more detailed analyses of the importance of genetic, maternal and environmental factors on seizure risk.

神经科学的最新进展，在癫痫发作分类程序中 在遗传方法论中，为新工具提供了重要的新工具 阐明遗传，母性和环境因素的重要性 有癫痫的风险。虽然有可能最终 证明遗传因素会影响三个 癫痫的形式（良性新生儿，少年肌阵挛和进步 Myoclonus），基因型对大多数形式的癫痫发作风险的贡献 癫痫是未知的。拟议研究的目标是识别和 解决遗传，母体和环境因素在 癫痫发作的病因和特定的癫痫综合征，并检查 癫痫表型在先天性畸形的风险中的作用 利用癫痫发作的数据的癫痫发作的个体的后代 先天性畸形的历史和历史 基于人群的弗吉尼亚双注注册表中包含的双胞胎对 挪威双胞胎面板。这些注册机构是从重要记录开发的 目前包含有关21，000多个成人双胞胎及其的信息 家庭。拟议的研究将重点放在超过800个成人双胞胎对上 报告一对成员的癫痫发作，估计350年 双胞胎通过调查父母，超过800个双胞胎来识别双胞胎 亲戚报告了一个或多个双胞胎的癫痫发作，但不在 双胞胎本身以及一群年龄，性别，种族和Zygosity匹配 控件。与对照和对照中的癫痫发作有关的数据 受影响个体发生的癫痫发作的发生和类型将 收集以进行分析。有关生殖历史的详细信息 受影响的双胞胎，包括先天性畸形 也将收集后代。案件将被编码为家庭 会员资格并使用医疗记录进行验证。编码案件将是 使用国际 癫痫发作，癫痫和癫痫综合征的分类。这 要收集的数据集的独特家庭结构将允许 使用几种不同的方法论方法评估 这项研究提出的假设。标准流行病学方法将是 用于检查特定人口因素在癫痫发作中的作用 发生。遗传因素和母体因素在确定 癫痫和特定癫痫综合征的风险以及 后代先天性畸形风险的癫痫表型将 可以使用经典双胞胎和Cotwin对照研究进行评估。逻辑 回归技术将用于更详细的分析 遗传，母体和环境因素对癫痫发作风险的重要性。