2024年12月25日 · GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) is a Protein Coding gene. Diseases associated with GRIN2B include Developmental And Epileptic Encephalopathy 27 and Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures.

Pathogenic variants (“mutations”) in the GRIN2B gene cause a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delays, movement disorders and features of autism spectrum disorder. The symptoms a child experiences and the severity of the disorder can vary widely.

Welcome to the GRIN2B Foundation! Our goal is to offer support to the growing community of children diagnosed with alterations in their GRIN2B gene.

2018年5月31日 · GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals.

Individuals with GRIN2B -related neurodevelopmental disorder have mild to profound intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Some affected individuals never develop speech or the ability to walk on their own.

Glutamate [NMDA] receptor subunit epsilon-2, also known as N-methyl D-aspartate receptor subtype 2B (NMDAR2B or NR2B), is a protein that in humans is encoded by the GRIN2B gene.

GRIN2B is a gene located on the short arm (called “p”) of the 12th chromosome at 12p13.1. It is one member of a family of 7 genes, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, and GRIN3B. These genes encode proteins that together form a receptor that is responsible for sending chemical messages between neurons in the brain.

GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder that is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.

The GRIN2B gene provides instructions for making a protein called GluN2B. This protein is found in nerve cells (neurons) in the brain, primarily during development before birth. The GluN2B …

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.