Pathogenic variants (“mutations”) in the GRIN2A gene cause a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delays, and 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. …

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 …

2024年12月25日 · GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) is a Protein Coding gene. Diseases associated with GRIN2A include Epilepsy, Focal, With Speech …

GRIN2A variants are associated with epileptic encephalopathies such as Landau-Kleffner Syndrome (LKS) and Continuous Spike and Wave During Sleep (CSWS). They are also …

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 …

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 …