Clinical-genetic Investigations in Children With Early Infantile Epilepsies
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 75
- 试验地点
- 1
- 主要终点
- Discovery of a pathogenic mutation in an ion channel gene
研究概览
简要总结
The project strives to discover novel genetic defects that cause monogenic epilepsy or that genetically modify a preexisting epileptic phenotype. Our main aim is to find genetic causes for the idiopathic West Syndrome (infantile seizures) that are not caused by known cerebral malformation, lissencephaly or metabolic disorders and which have a comparatively benign prognosis.
The investigators hypothesize that mutations in genes coding for ion channels or genes that modify the action of ion channels might be causative.
For that the investigators will perform a sequence analysis of the coding exons of a large set of genes in all recruited patients and verify found mutations in their parents.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 10 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Hypsarrhythmia in the first year of life
- •Infantile seizures in the first year of life
- •Freedom of seizures at the age of 5 years
排除标准
- •brain malformation
- •metabolic disorder
- •intracranial hemorrhage
- •lissencephaly
结局指标
主要结局
Discovery of a pathogenic mutation in an ion channel gene
时间窗: 4 weeks after taking of the DNA specimen
次要结局
未报告次要终点
研究者
Markus Schuelke, M.D.
Prinicpal investigator
Charite University, Berlin, Germany