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

• 主要な著者: Jiancheng Jiao (著者), Li Li (著者), Min Sun (著者), Junchen Fang (著者), Lingzhi Meng (著者), Yudong Zhang (著者), Chao Jia (著者), Li Ma (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...