When a disorder is traced back to a pathogenic variant in the GRIN2A gene, it is called a GRIN2A -related disorder. In many children with GRIN2A -related disorders, delays in achieving …

2025年3月30日 · GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) is a Protein Coding gene. Diseases associated with GRIN2A include Epilepsy, Focal, With Speech …

2016年9月29日 · GRIN2A-related disorders encompass a broad phenotypic spectrum that includes developmental delay evolving to intellectual disability (DD/ID), epilepsy, speech and …

Glutamate [NMDA] receptor subunit epsilon-1 is a protein that in humans is encoded by the GRIN2A gene. [5] . With 1464 amino acids, the canonical GluN2A subunit isoform is large. …

该基因编码谷氨酸门控离子通道蛋白家族的一个成员。 编码的蛋白质是 N-甲基-D-天冬氨酸 (NMDA) 受体亚基。 NMDA 受体既是配体门控的又是电压依赖性的，并且参与长期增强，突触 …

2019年1月1日 · Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders …

2023年9月22日 · We review the genomic evidence, and the findings from Grin2a mutant mice and other models which give clues as to the likely phenotypic impacts of GRIN2A genetic variation.

编码NMDA受体亚基的 GRIN 基因的变异所致的GRIN相关疾病 (GRIN-related disorders，GRDs)主要表现为癫痫发作、智力障碍/发育迟缓 (intellectual disability/developmental delay，ID/DD) …

GRIN2A variants are linked to autism spectrum disorder (ASD) but to a lesser degree than seen with GRIN2B variants ( Table 1). GRIN variants have been identified both by screening of a …

The GRIN2A gene provides instructions for making a protein called GluN2A (formerly known as NR2A). This protein is found in nerve cells (neurons) in the brain and spinal cord, including …