NeuroscienceNature CommunicationsPeer-reviewed
Neuronal network dysfunction in a human model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Monica Frega, Katrin Linda, Jason M. Keller…·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.
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