Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B .
Stefanie BrockAnnie LaquerriereFlorent MarguetScott J MyersYuan HongjieDiana BaralleTim VanderhasseltKatrien StouffsKathelijn KeymolenSukhan KimJames AllenGil ShaulskyJamel ChellyPascale MarcorelleJacqueline AzizaLaurent VillardElise SacazeMarie C Y de WitMartina WilkeGrazia Maria Simonetta ManciniUte HehrDerek LimShehla MohammedStephen F TraynelisClaire BeneteauMarie Denis-MusquerAnna C JansenAndrew E FryNadia Bahi-BuissonPublished in: Journal of medical genetics (2022)
These findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.