Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Kleefstra syndrome is a neurodevelopmental disorder associated with hapoinsufficiency of the histone methyltransferase EHMT1. Here the authors show using induced pluripotent cells-derived neurons from patients that network dysfunction occurs and is due to dysfunction of the NMDA receptor.

Bibliographic Details
Main Authors: Monica Frega, Katrin Linda, Jason M. Keller, Güvem Gümüş-Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun Klein Gunnewiek, Katharina Foreman, Nine Kompier, Chantal Schoenmaker, Willem van den Akker, Ilse van der Werf, Astrid Oudakker, Huiqing Zhou, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Nael Nadif Kasri
Format: Article
Language:English
Published: Nature Publishing Group 2019-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-12947-3

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