GENETICS OF HUMAN EPILEPSY AND COGNITIVE DISORDERS

人类癫痫和认知障碍的遗传学

• 批准号: 7607242
• 负责人: Christopher E Walsh
• 金额: $ 1.74万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7607242
• 关键词: Cerebrum; Childhood; Chronic; Classification; Cognition Disorders; Computer Retrieval of Information on Scientific Projects Database; Condition; Congenital cerebellar hypoplasia; Development; Disease; Epilepsy; Funding; Genes; Goals; Grant; Health Care Costs; Human; Human Genetics; Individual; Institution; Intractable Epilepsy; Laboratories; Link; Medical; Pathogenesis; Process; Research; Research Personnel; Resources; Seizures; Source; United States National Institutes of Health; brain malformation; cost; periventricular heterotopia

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.

这个子项目是许多研究子项目中的一个 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。 癫痫，特别是小儿癫痫，是一种慢性疾病，具有巨大的长期医疗费用，其中大部分费用来自患有医学难治性癫痫发作的个体。 多达一半的医学难治性小儿癫痫病例与大脑皮质发育异常有关。 识别参与皮质发育的基因是理解这种发育发生过程的第一步。 我们的实验室先前已经鉴定了负责与难治性癫痫相关的三种人类病症的基因：脑室周围异位（PH）（Fox et al.，1998）、双皮质/X连锁无脑回畸形（DC/KLIS）（Gleeson等，1998; Gleeson等人，1999）和无脑回畸形伴小脑发育不全（Hong等，2000）。 这项研究的总体目标是继续确定与人脑畸形相关的基因，以便更好地了解其分类，发病机制和潜在的治疗方法。