Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

The N-methyl-D-aspartate receptors (NMDARs; GluNRS) are glutamate receptors, commonly located at excitatory synapses. Mutations affecting receptor function often lead to devastating neurodevelopmental disorders. We have identified two toddlers with different heterozygous missense mutations of the sa...

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Bibliographic Details
Main Authors: Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-07-01
Series:eLife
Subjects:
GRIN
encephalopathy
ligand binding domain
de novo mutation
loss of function
neurons
Online Access:https://elifesciences.org/articles/67555

Internet

https://elifesciences.org/articles/67555

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