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 encoded NMDA rece...

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Wedi'i Gadw mewn:

Manylion Llyfryddiaeth
Prif Awduron:	Marwa Elmasri, James S. Lotti, Wajeeha Aziz, Oliver G. Steele, Eirini Karachaliou, Kenji Sakimura, Kasper B. Hansen, Andrew C. Penn
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	MDPI AG 2022-06-01
Cyfres:	Brain Sciences
Pynciau:	ionotropic glutamate receptors de novo mutations central nervous system synaptic transmission electrophysiology
Mynediad Ar-lein:	https://www.mdpi.com/2076-3425/12/6/789
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

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

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