Neuronal network dysfunction in a human model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Monica Frega, Katrin Linda, Jason M. Keller, Guvem Gumus Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun M. Klein Gunnewiek, Katharina Foreman, Nine F. Kompier, Chantal Schoenmaker, Willem M.R. van den Akker, Ilse van der Werf, Astrid R. Oudakker, Huiqing Zhou, , Nael Nadif Kasri
This study shows that EHMT1 deficiency in human neurons leads to NMDAR hyperfunction, causing neuronal network dysfunction in Kleefstra syndrome, and demonstrates pharmacological rescue of these phenotypes.
Nature Communications · Oct 30, 2019Peer-reviewedNeuroscience