Novel gene identification and characterisation in epilepsy.

癫痫的新基因鉴定和表征。

• 批准号: nhmrc : 1016715
• 负责人: Dr Sarah Heron
• 金额: $ 20.27万
• 依托单位: University of South Australia
• 依托单位国家: 澳大利亚
• 项目类别: Early Career Fellowships
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/novel-gene-identification-characterisation-epilepsy/109804
• 关键词: Novel; gene; identification; characterisation; epilepsy.

Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.

癫痫是一种严重的神经系统疾病，在生命的某个阶段影响多达5%的人口。大约70%的癫痫病例是遗传性的，但很少有涉及的基因被确定。该项目将使用最先进的技术来识别导致影响婴儿的遗传性癫痫的基因突变。这项研究有望揭示参与癫痫发生的新基因家族，从而为治疗方法的开发提供新的靶点。