Gene discovery and characterisation in the familial focal epilepsies

家族性局灶性癫痫的基因发现和表征

• 批准号: nhmrc : GNT1085984
• 负责人: Dr Sarah Heron
• 金额: $ 41.18万
• 依托单位国家: 澳大利亚
• 项目类别: Career Development Fellowships
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/gene-discovery-characterisation-focal-epilepsies/1345645
• 关键词: Gene; discovery; characterisation; familial; focal

Around 2% of people have epilepsy at some time in their lives. A large proportion of cases are thought to have a genetic cause, but genes have not yet been identified for most patients. The aim of this project is to use state-of-the-art genetic methods to identify genetic mutations causing epilepsy and to then study the effects of these mutations to better understand the biological causes of epilepsy. This in turn will lead to better diagnosis of epilepsy and improved treatment for patients.

大约2%的人在一生中的某个时候会患上癫痫。很大一部分病例被认为是由基因引起的，但大多数患者的基因尚未确定。该项目的目的是使用最先进的遗传学方法来识别导致癫痫的基因突变，然后研究这些突变的影响，以更好地了解癫痫的生物学原因。这反过来将导致对癫痫的更好诊断和患者更好的治疗。