Overlapping cortical malformations in patients with pathogenic variants in and .
Fiche publication
Date publication
avril 2022
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N
Lien Pubmed
Résumé
Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in or , genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs.
Mots clés
Genetics, Nervous System Malformations, Pathology, Pediatrics, Radiology
Référence
J Med Genet. 2022 Apr 7;: