GRIA (GRIA1, GRIA2, GRIA3, GRIA4)

GRIA genes are a gene family that encode the subunits of AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptors in the brain. AMPA receptors are critical for fast synaptic transmission in the central nervous system, playing key roles in synaptic plasticity, learning, and memory. The GRIA gene family each encode a different subunit of the AMPA receptor:

GRIA1: Encodes the GluA1 subunit.
GRIA2: Encodes the GluA2 subunit.
GRIA3: Encodes the GluA3 subunit.
GRIA4: Encodes the GluA4 subunit.

We are currently building our content on the science behind GRIA variants. Come back here soon to find out more!

GRIA SYMPTOMS ​

GRIA gene variants are rare and while there may be similarities between patients, they will be different for each person. Some may have certain symptoms from the day they are born, others may initially seem well, but not meet the typical developmental milestones as children of the same age. Symptoms may also appear and disappear at different points in a person’s life. We are constantly building out knowledge and understanding of GRIA gene variants.

Due to the limited number of people diagnosed with pathogenic GRIA variants, a comprehensive understanding of all associated symptoms remains unclear. However, some people with pathogenic GRIA gene disorders have exhibited neurological and neurodevelopmental disorders, with mild to profound developmental and cognitive impairment, including early-onset and treatment-resistant seizures, cognitive, physical and emotional difficulties, and autism-like traits.

Get in touch here if you know of any published papers which highlight the symptoms of GRIA variants, or, you would be happy to share your symptoms or the person you care for (in an anonymous way), so we can grow our understanding of GRIA symptoms further.

GRI gene family

GRIK (GRIK1, GRIK2, GRIK3, GRIK4, GRIK5)

The GRIK gene family encodes the subunits of kainate receptors, which are one of the types of ionotropic glutamate receptors found in the nervous system. Glutamate is the principal excitatory neurotransmitter in the brain, and its receptors, including kainate receptors,

Read More »

GRID (GRID1, GRID2)

GRID genes are a gene family which includes genes that encode the subunits of the delta glutamate receptors, which are less commonly understood receptors compared to the more widely known AMPA, NMDA, and Kainate receptors. Delta glutamate receptors, denoted by

Read More »