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

CONCLUSION: 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.PMID:35091117 | DOI:10.1016/j.ejmg.2022.104445

Source: European Journal of Medical Genetics - January 29, 2022 Category: Genetics & Stem Cells Authors: Lionel Arnaud Marie-Th érèse Abi Warde Giulia Barcia Julitta de Bellescize Nicolas Chatron Marie Faoucher Anne de Saint Martin Delphine H éron Guillaume Jedraszak Caroline Lacoste Anne-Sophie L èbre M élanie Jenneson-Lyver Audrey Labalme Eric Leguern Source Type: research