GENETICS OF HUMAN EPILEPSY AND COGNITIVE DISORDERS

人类癫痫和认知障碍的遗传学

• 批准号: 7380716
• 负责人: Christopher E Walsh
• 金额: $ 4.14万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7380716
• 关键词: GENETICS; HUMAN; EPILEPSY; COGNITIVE; DISORDERS

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.

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。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医学上难治性癫痫发作的个体。多达一半的医学难治性儿童癫痫病例与大脑皮质发育异常有关。识别与皮质发育有关的基因是理解这种发育发生的过程的第一步。我们的实验室先前已经确定了与难治性癫痫相关的三种人类疾病相关的基因：心室周围异位（PH） （Fox等人，1998年）、双皮质/ x -联无脑畸形（DC/KLIS） （Gleeson等人，1998年；Gleeson等人，1999年）和无脑畸形伴小脑发育不全（Hong等人，2000年）。本研究的总体目标是继续识别与人类大脑畸形相关的基因，以便更好地了解其分类、发病机制和潜在的治疗方法。