The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Fiche publication
Date publication
janvier 2022
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Arnaud L, Abi Warde MT, Barcia G, de Bellescize J, Chatron N, Faoucher M, de Saint Martin A, Héron D, Jedraszak G, Lacoste C, Lèbre AS, Jenneson-Lyver M, Labalme A, Leguern E, Mignot C, Milh M, Nabbout R, Nava C, Panagiotakaki E, Piton A, Schaefer E, Thevenon J, Villard L, Ville D, Lesca G
Lien Pubmed
Résumé
The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in epileptology and neurophysiology. The ambition of the network was to harmonize and improve the diagnostic strategy of Mendelian epileptic disorders using next-generation sequencing, in France. Over the years, five additional centers have joined EPIGENE and the network has been working in close collaboration, since 2018, with the French reference center for rare epilepsies (CRéER).
Mots clés
Epilepsy, Gene panel, Mendelian, Monogenic, Next-generation sequencing, Whole-genome sequencing
Référence
Eur J Med Genet. 2022 Jan 25;:104445