GENETIC CHARACTERIZATION OF EPISODIC NEUROLOGIC DYSFUNCTION

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。在神经系统疾病中，存在大量的个体出现一过性神经症状的急性发作的情况。Swoboda博士正在研究一组遗传性神经疾病，其中运动异常是主要的神经症状。这些异常运动被称为运动障碍。进行家系研究以确定受影响的家庭成员，然后通过连锁分析确定基因座。然后，她使用候选基因分析方法或位置克隆方法来识别感兴趣的特定候选基因。斯沃博达博士假设，许多基因将与此类障碍有关，并正在积极研究确定三种此类障碍的候选基因：阵发性运动性运动障碍、阵发性非运动性运动障碍和儿童交替性偏瘫。这项研究利用GCRC门诊诊所、核心实验室和小学儿童医学中心的儿科神经科诊所，通过一座桥连接到大学医院。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Among disorders of the nervous system, a large number of conditions exist in which individuals suffer the acute onset of transient neurologic symptoms. Dr. Swoboda is studying a group of inherited neurologic disorders in which abnormal movements constitute the main neurologic symptoms. These abnormal movements are called dyskinesias. Pedigree studies are done to identify affected family members, then gene loci are identified via linkage analysis. She then uses either a candidate gene analysis approach or positional cloning approach to identify a specific candidate gene of interest. Dr. Swoboda hypothesizes that a number of genes will be involved in such disorders, and is actively working on defining gene candidates in three such disorders: paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, and alternating hemiplegia of childhood. This study utilizes the GCRC outpatient clinic, the core laboratories, and the pediatric neurology clinic at the Primary Childrens Medical Center, connected to the University Hospital by a bridge.