Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report

Abstract Background N-methyl-D-aspartate (NMDA) receptors are ligand-gated ion channels that mediate excitatory synaptic transmission in the central nervous system. The functional NMDA receptors are heterotetramers consisting mainly of two GluN1 and two GluN2 subunits. GluN2 is encoded by the GRIN2D...

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Bibliographic Details
Main Authors: Jiancheng Jiao, Li Li, Min Sun, Junchen Fang, Lingzhi Meng, Yudong Zhang, Chao Jia, Li Ma
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Pediatrics
Subjects:
case report
NMDA receptors
GRIN2D variants
de novo mutation
epileptic encephalopathy
anti-epileptic medications
Online Access:https://doi.org/10.1186/s12887-020-02462-6

Internet

https://doi.org/10.1186/s12887-020-02462-6

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