Identification and characterisation of genes causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) and related phenotypes

导致常染色体显性遗传性夜间额叶癫痫 (ADNFLE) 及相关表型的基因的鉴定和表征

• 批准号: nhmrc : 1070668
• 负责人: Dr Sarah Heron
• 金额: $ 25.11万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-characterisation-genes-related-phenotypes/454607
• 关键词: Identification; characterisation; genes; causing; Autosomal

Epilepsy affects approximately 2% of the population at some stage of their lives. We have recently identified two new genes involved in the development of a type of epilepsy known as ADNFLE. We aim to identify further epilepsy genes by sequencing ADNFLE patients who do not yet have identified mutations. We also aim to identify the genes interacting with the genes we have identified, increasing our understanding of the cellular networks involved in the development of epilepsy.

癫痫病影响大约2%的人口在他们生命的某个阶段。我们最近发现了两个新的基因参与了一种称为ADNFLE的癫痫的发展。我们的目标是通过对尚未发现突变的ADNFLE患者进行测序来进一步确定癫痫基因。我们的目标还包括识别与我们已识别的基因相互作用的基因，从而增加我们对参与癫痫发展的细胞网络的了解。