GRIK Disorder is part of a larger family of genetic diseases related to ionotropic glutamate receptors and is caused by a change in one of four GRIK genes including GRIK1, GRIK2, GRIK3, GRIK4, and GRIK5. These genes contain the code to create kainate receptor.  

Thus far, several GRIK2 variants have been identified. Patients with GRIK2 variants have symptoms such as intellectual disability, developmental delay, seizures, and visual or sensory changes. Researchers have identified six patients with a GRIK2 p.A657T (c.1969G>A) variant so far. For the patients with the p.A657T variant, they share symptoms of intellectual disability, developmental delay, and do not have seizures, visual, or sensory changes. 

We do not know of disease-causing variants in the other GRIK genes yet. Therefore, we do not have a clear sense of how common GRIK Disorder is yet because so few patients have been reported in the registry and scientific literature. 

To date, there have been no potential treatments identified targeting the kainate receptors for GRIK Disorder.  

CureGRIN plans to work with researchers, clinicians, biotechnology companies, and pharmaceutical companies to encourage and help facilitate the development and testing of treatments for GRIK Disorder patients.