Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 450
- 试验地点
- 2
- 主要终点
- qualitative genetic analysis
研究概览
简要总结
Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas.
This study aims to identify brain somatic mutations using paired blood-brain samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 3 Months 至 25 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children with focal drug-resistant epilepsy including Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic Hamartomas, Sturge-Weber syndrome, Rasmussen encephalitis, gliomas
- •Their parents who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves
- •Social security coverage or foreign regime recognized in France
排除标准
- •refusal to participate in the study
- •contraindication to anaesthesia, to MRI or to surgery
- •no medical insurance coverage
研究组 & 干预措施
Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.
Sequencing of paired blood-brain DNA samples, SEEG electrodes
干预措施: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF) (Genetic)
结局指标
主要结局
qualitative genetic analysis
时间窗: baseline
Detection of brain somatic mutations and functional studies
次要结局
未报告次要终点