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Genetics of Epilepsy: Completing our understanding

Genetics of Epilepsy: Completing our understanding
癫痫遗传学:完善我们的理解
批准号:
nhmrc : 1196637
负责人:
金额:
$300.0万
依托单位:
依托单位国家:
澳大利亚
项目类别:
Investigator Grants
财政年份:
2021
资助国家:
澳大利亚
项目状态:
未结题
起止时间:
2021-01-01 至 2025-12-31

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中文摘要
翻译
发现癫痫的遗传原因对于准确诊断和家庭咨询,优化当前治疗和开发新疗法至关重要。我们将利用我们收集的大量经过仔细评估的澳大利亚病例和国际数据集,由我主持的财团协调,以详细了解癫痫的遗传原因。这将改变遗传学在临床上的应用,带来更好的即时治疗,并有助于开发新的治疗方法
英文摘要
Finding genetic causes of epilepsies is vital for accurate diagnosis and family counseling, to optimize current treatments and to develop novel therapies. We will leverage our large collection of carefully evaluated Australian cases with international data sets, coordinated by Consortia that I chair, to develop a detailed understanding of the genetic causes of epilepsy. This will transform the use of genetics in the clinic, lead to better immediate treatment and aid in developing novel therapies
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