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Article

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

BMC pediatrics - 4 Jan 2021

Jiao Jiancheng, Li Li, Sun Min, Fang Junchen, Meng Lingzhi, Zhang Yudong, Jia Chao, Ma Li

Abstract excerpt

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 gene. A few case series have shown that GRIN2D variants are linked to developmental and epileptic encephalopathy. In this...

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Brain Diseases
Electroencephalography
Epilepsy
Infant, Newborn
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, N-Methyl-D-Aspartate

Spasms, Infantile

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Identifiers

PMID: 33397303
DOI: 10.1186/s12887-020-02462-6
PMCID: PMC7780707

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