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

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. GluN2A-short isoforms specific to primates can be produced by alternative splicing and contain 1281 amino acids. [6][7]

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 language disorders, movement disorders, and neuropsychiatric disorders. Intellect ranges from normal to profoundly impaired.

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 Disorder And With Or Without Impaired Intellectual Development and Landau-Kleffner Syndrome.

GRIN2A variants are associated with epileptic encephalopathies such as Landau-Kleffner Syndrome (LKS) and Continuous Spike and Wave During Sleep (CSWS). They are also associated with other encephalopathic phenotypes. GRIN2A variants have also been identified in people with focal epilepsies.

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 regions of the brain involved in speech and language.

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 with prominent speech-related features, and epilepsy.