The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
European Journal of Medical Genetics(2022)
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.
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关键词
Epilepsy,Monogenic,Mendelian,Next-generation sequencing,Gene panel,Whole-genome sequencing
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