Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy
研究概览
简要总结
The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG data; (4) to find prognostic biomarkers of KCNQ2-related epilepsy based on omics study.
详细描述
- Participant recruitment: participants are recruited from Chinese KCNQ2-related epilepsy patients group (http://www.kcnq2.cn/). According to the clinical phenotype, the participants will be divided into benign familial neonatal seizures (BFNS) group and Developmental and epileptic encephalopathy (DEE) group.
- Genotype-phenotype association: electrophysiological detection of KCNQ2 mutation will be performed using patch clamp technique in an in vitro cell model. The association between phenotype (such as epileptic phenotype, developmental assessment and drug response) and genotype will be analyzed.
- Brain network analysis: participants who provide informed consent will be scaned by brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT) and monitored by the electroencephalogram (EEG). The Brain Network of KCNQ2-related epilepsy will be analyzed based on multi-modal brain image and EEG between BFNS and DEE group.
- Omics Study: after informed consent, blood, urine and feces samples of participants will be taken. The samples were tested for omics study including proteomics, metabolomics, transcriptomics, to analysis the difference of BFNS and DEE group.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •KCNQ2 mutation was confirmed by WES, Panel and other gene tests;
- •Clinically diagnosed as epilepsy;
- •KCNQ2 mutation was identified as pathogenic or possibly pathogenic according to ACMG pathogenicity rating standard;
- •Age and gender are not limited;
- •No abnormal birth history;
- •Informed consent and willingness to follow up
排除标准
- •Patients with KCNQ2 mutation without epilepsy;
- •Other possible pathogenic gene mutations except KCNQ2;
- •Large cross-gene deletions or duplications including KCNQ2;
- •Unable to participate in the study follow-up
结局指标
主要结局
Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy
时间窗: 0-18 years old
Analysis of Clinical information of KCNQ2-related Epilepsy such as phenotype, genotype, brain image ,EEG, living quality and comorbidity.
Study on the brain network of KCNQ2-related epilepsy
时间窗: 0-18 years old
Analysis of brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG
Study on the omics testing of KCNQ2-related epilepsy
时间窗: 0-18 years old
Analysis of prognostic biomarker of KCNQ2-related epilepsy based on proteomics, metabolomics, transcriptomics.
次要结局
未报告次要终点