Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation

Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation

NMDA receptor dysfunction is central to the encephalopathies caused by missense mutations in the NMDA receptor subunit genes. Missense variants of GRIN1, GRIN2A, and GRIN2B cause similar syndromes with varying severity of intellectual impairment, autism, epilepsy, and motor dysfunction. To gain insi...

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Bibliographic Details
Main Authors: Katheron Intson, Matthijs C. van Eede, Rehnuma Islam, Marija Milenkovic, Yuanye Yan, Ali Salahpour, R. Mark Henkelman, Amy J. Ramsey
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Neurobiology of Disease
Subjects:
GRIN1
GluN1
NR1
NMDA
Encephalopathy
Autism
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119301950

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