EPISODIC ATAXIA: GENOTYPE-PHENOTYPE CORRELATION AND NATURAL HISTORY STUDY

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 具体目标： 本研究的目的是通过建立一个发作性共济失调患者及其家属的临床检查结果和遗传分析数据库来提高发作性共济失调（EA）患者的诊断和管理。 一个具体的目标是了解发作性共济失调患者脑电图异常的患病率和范围，无论他们是否有明显的癫痫发作。

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. SPECIFIC AIMS: The objective of this research is to improve the diagnosis and management of patients with episodic ataxia (EA) by creating a database of clinical examination findings and genetic analysis from patients with episodic ataxia and their families. One specific goal is to see the prevalence and range of EEG abnormalities there are in patients with episodic ataxia, whether or not they have overt seizures.