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

• Main Authors: Jiancheng Jiao (Author), Li Li (Author), Min Sun (Author), Junchen Fang (Author), Lingzhi Meng (Author), Yudong Zhang (Author), Chao Jia (Author), Li Ma (Author)
• Format: Book
• Published: BMC, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...