The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

European Journal of Medical Genetics(2022)

引用 2|浏览12
暂无评分
摘要
These results suggest that a gene-panel approach is an efficient first-tier test for the genetic diagnosis of Mendelian epileptic disorders. In a near future, French patients with "drug-resistant epilepsies with seizure-onset in the first two-years of life" can benefit from whole-genome sequencing (WGS), as a second line genetic screening with the implementation of the 2025 French Genomic Medicine Plan. The EPIGENE network has also promoted scientific collaborations on genetic epilepsies within CRéER.
更多
查看译文
关键词
Epilepsy,Monogenic,Mendelian,Next-generation sequencing,Gene panel,Whole-genome sequencing
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要