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

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...

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Detalles Bibliográficos
Autores principales: Jiao, Jiancheng, Li, Li, Sun, Min, Fang, Junchen, Meng, Lingzhi, Zhang, Yudong, Jia, Chao, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7780707/
https://www.ncbi.nlm.nih.gov/pubmed/33397303
http://dx.doi.org/10.1186/s12887-020-02462-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7780707/
https://www.ncbi.nlm.nih.gov/pubmed/33397303
http://dx.doi.org/10.1186/s12887-020-02462-6

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