Study to investigate endophenotypes in epilepsy.

调查癫痫内表型的研究。

• 批准号: G0701310/1
• 负责人: Fahmida Chowdhury
• 金额: $ 26.31万
• 依托单位: King's College London
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2008
• 资助国家: 英国
• 起止时间: 2008 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0701310%2F1
• 关键词: Study; investigate; endophenotypes; epilepsy.

The cause of epilepsy is complicated and probably involves many genes working together. Currently our understanding of the genetics of epilepsy is limited.There are certain characteristics called ‘endophenotypes‘ which may be present in individuals who carry genes that cause a disease, but who do not show symptoms of the disease. Identification of these characteristics has revolutionised genetic studies in other diseases, but the potential for endophenotypes to cast light on the genetics of epilepsy has not yet been exploredEndophenotypes can only be detected with special tests. We plan to study families with epilepsy to try to identify endophenotypes using a number of methods. One method, EEG, measures electrical activity of the brain. A second method, transcranial magnetic stimulation, measures brain activity using special magnets. We will also use brain scanning methods (magnetic resonance imaging and spectroscopy) to obtain images of the brain and to measure chemical levels in the brain. We hope to identify abnormalities with these tests in apparently unaffected relatives of patients with epilepsy.If successful, the identification of endophenotypes will contribute to the identification of genes that cause epilepsy, and by understanding better the genetic causes of epilepsy, we can move towards developing new treatments.

癫痫的病因很复杂，可能涉及到许多基因共同作用。目前，我们对癫痫的遗传学了解还很有限。有一些被称为内表型的特征可能存在于携带致病基因的个体身上，但他们没有表现出疾病的症状。对这些特征的识别已经为其他疾病的遗传学研究带来了革命性的变化，但内表型揭示癫痫遗传学的潜力尚未被探索，只有通过特殊测试才能检测到内表型。我们计划对癫痫家系进行研究，以尝试使用多种方法识别内表型。一种名为EEG的方法可以测量大脑的电活动。第二种方法是经颅磁刺激，使用特殊的磁铁测量大脑活动。我们还将使用脑扫描方法(磁共振成像和光谱分析)来获得大脑的图像，并测量大脑中的化学水平。我们希望通过这些测试来识别癫痫患者明显未受影响的亲属的异常。如果成功，内表型鉴定将有助于识别导致癫痫的基因，通过更好地了解癫痫的遗传原因，我们可以朝着开发新的治疗方法迈进。