Omics-based Precision Medicine of Epilepsy
关键词
抽象
描述
Research projects:
Part 1: Based on already existed large samples of epilepsy clinical cases, choose 2,0000 non-acquired epilepsy patients for clinical general phenotype and middle phenotype(EEG and MRI) data collection to further multi-dimensional standardization measure and evaluate. Through metabolic detection to define micro-phenotype. Establish a standardized clinical and biological samples database.
Part 2: By NGS technology to sequence for all cases, including family members, then require genotype. To test brain tissue DNA somatic mutation, which MRI negative and had an operation. To verify the newly discovered pathogenic candidate genes and carry on functional studies. Finally, to draw epileptic genetic mutations mapping in Chinese people.
Part 3: Integrated clinical and genetic epilepsy phenotypic data, combined with neural EEG and image bitmap data points for bio-markers analysis, included early warning, classification of diagnosis, curative effect prediction and epilepsy con-morbidity disease.
日期
最后验证: | 10/31/2017 |
首次提交: | 11/25/2017 |
提交的预估入学人数: | 11/28/2017 |
首次发布: | 11/29/2017 |
上次提交的更新: | 11/28/2017 |
最近更新发布: | 11/29/2017 |
实际学习开始日期: | 11/24/2017 |
预计主要完成日期: | 11/25/2017 |
预计完成日期: | 06/30/2018 |
状况或疾病
干预/治疗
Other: EP
相
手臂组
臂 | 干预/治疗 |
---|---|
EP For diagnosis non-acquired epilepsy; | Other: EP non |
资格标准
有资格学习的性别 | All |
取样方式 | Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - non-acquired epilepsy; family involved(children, father and mother); Han nationality; Consent and will to follow up Exclusion Criteria: - Acquired epilepsy; Very low birth weight infant |
结果
主要结果指标
1. The important bio-markers for the efficient therapy and prognosis [2017.02-2018.07]