Synaptic Dysfunction by Mutations in <i>GRIN2B</i>: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification

Synaptic Dysfunction by Mutations in <i>GRIN2B</i>: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification

<i>GRIN2B</i> mutations are rare but often associated with patients having severe neurodevelopmental disorders with varying range of symptoms such as intellectual disability, developmental delay and epilepsy. Patient symptoms likely arise from mutations disturbing the role that the encod...

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Bibliographic Details
Main Authors: Marwa Elmasri, James S. Lotti, Wajeeha Aziz, Oliver G. Steele, Eirini Karachaliou, Kenji Sakimura, Kasper B. Hansen, Andrew C. Penn
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Brain Sciences
Subjects:
ionotropic glutamate receptors
de novo mutations
central nervous system
synaptic transmission
electrophysiology
Online Access:https://www.mdpi.com/2076-3425/12/6/789

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https://www.mdpi.com/2076-3425/12/6/789

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