Brock, Stefanie 
; Laquerriere, Annie ; Marguet, Florent ; Myers, Scott J ; Hongjie, Yuan ; Baralle, Diana ; Vanderhasselt, Tim ; Stouffs, Katrien ; Keymolen, Kathelijn ; Kim, Sukhan ; Allen, James ; Shaulsky, Gil ; Chelly, Jamel ; Marcorelle, Pascale ; Aziza, Jacqueline ; Villard, Laurent ; Sacaze, Elise ; de Wit, Marie C Y ; Wilke, Martina ; Mancini, Grazia Maria Simonetta ; Hehr, Ute ; Lim, Derek ; Mansour, Sahar ; Traynelis, Stephen F ; Beneteau, Claire ; Denis-Musquer, Marie ; Jansen, Anna C ; Fry, Andrew E ; Bahi-Buisson, Nadia
; Laquerriere, Annie ; Marguet, Florent ; Myers, Scott J ; Hongjie, Yuan ; Baralle, Diana ; Vanderhasselt, Tim ; Stouffs, Katrien ; Keymolen, Kathelijn ; Kim, Sukhan ; Allen, James ; Shaulsky, Gil ; Chelly, Jamel ; Marcorelle, Pascale ; Aziza, Jacqueline ; Villard, Laurent ; Sacaze, Elise ; de Wit, Marie C Y ; Wilke, Martina ; Mancini, Grazia Maria Simonetta ; Hehr, Ute ; Lim, Derek ; Mansour, Sahar ; Traynelis, Stephen F ; Beneteau, Claire ; Denis-Musquer, Marie ; Jansen, Anna C ; Fry, Andrew E ; Bahi-Buisson, Nadia 
Abstract
Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, 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. Methods We report the clinical, radiological and molecular features of 7 ...
Owner only: item control page
Altmetric