GENETIC CHARACTERIZATION OF EPISODIC NEUROLOGIC DYSFUNCTION

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。在神经系统疾病中，存在大量个体遭受短暂性神经症状急性发作的情况。斯沃博达博士正在研究一组遗传性神经系统疾病，其中异常运动是主要的神经系统症状。这些不正常的运动被称为运动障碍。通过系谱研究确定受影响的家庭成员，然后通过连锁分析确定基因位点。然后，她使用候选基因分析方法或定位克隆方法来确定感兴趣的特定候选基因。Swoboda博士假设许多基因将参与这些疾病，并积极致力于确定三种此类疾病的候选基因：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偏瘫。本研究利用了GCRC门诊诊所、核心实验室和初级儿童医疗中心的儿科神经病学诊所，通过一座桥与大学医院相连。

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.