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. Amarli's Mum Jade has been in regular contact with Keith McCarthur CEO of the Cure Grin Foundation in Canada. Keith & the Cure Grin team are very interested in Amarli's story and are very hopeful of finding a cure.
For more information on GRIK2 visit the Cure Grin Foundation
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