GENETICS OF HUMAN EPILEPSY AND COGNITIVE DISORDERS

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。癫痫，特别是儿童癫痫，是一种慢性疾病，具有巨大的长期医疗成本，其中大部分成本来自患有药物难治性癫痫的个人。多达一半的难治性儿童癫痫病例与大脑皮层发育异常有关。识别与皮质发育有关的基因是理解这一发育过程的第一步。我们的实验室以前已经确定了三个与难治性癫痫相关的人类疾病的相关基因：脑室周围异位(PH)(Fox等人，1998)、双皮质/X连锁无脑畸形(DC/Klis)(Gleeson等人，1998；Gleeson等人，1999)和无脑畸形伴小脑发育不良(Hong等人，2000)。这项研究的总体目标是继续识别与人脑畸形相关的基因，以便更好地了解它们的分类、发病机制和潜在的治疗方法。

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. Epilepsy, especially pediatric epilepsy, is a chronic medical condition with tremendous long-term healthcare costs, with most of this cost coming from individuals with medically intractable seizures. Up to half of medically intractable pediatric epilepsy cases are associated with abnormalities of cerebral cortical development. Identification of genes involved in cortical development is a first step in understanding the process by which this development occurs. Our laboratory has previously identified genes responsible for three human disorders associated with intractable epilepsy: periventricular heterotopia (PH) (Fox et al., 1998), double cortex/X-linked lissencephaly (DC/KLIS) (Gleeson et al., 1998; Gleeson et al., 1999), and lissencephaly with cerebellar hypoplasia (Hong et al., 2000). The overall goal of this study is to continue to identify genes that are associated with human brain malformations in order to better understand their classification, pathogenesis and potential treatments.