Tuberous sclerosis and epilepsy: using resected tissue to understand pathogenesis and inform management

结节性硬化症和癫痫：利用切除的组织了解发病机制并为治疗提供信息

• 批准号: nhmrc : GNT1128933
• 负责人: A/Pr Paul Lockhart
• 金额: $ 33.93万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/tuberous-sclerosis-epilepsy-inform-management/1347723
• 关键词: Tuberous; sclerosis; epilepsy; using; resected

Epilepsy is the commonest neurological disorder in childhood and seizures cannot be fully controlled by medications in 30%, often leading to developmental consequences. A major cause of drug-resistant epilepsy is a malformation of the brain’s surface. Surgery is sometimes used to remove these lesions to treat the epilepsy. We will study this tissue to understand its architecture, genetic basis and how it causes seizures. Our results will guide treatment including the best surgical approach.

癫痫是儿童最常见的神经系统疾病，30%的癫痫发作不能通过药物完全控制，往往会导致发育不良。抗药性癫痫的一个主要原因是大脑表面的畸形。手术有时被用来切除这些病变来治疗癫痫。我们将研究这种组织，以了解它的结构、遗传基础以及它是如何导致癫痫发作的。我们的结果将指导治疗，包括最好的手术方法。