Ionotropic Glutamate Receptors
GRI Disorders are part of a larger family of genetic diseases related to ionotropic glutamate receptors. These receptors play an important role in learning and memory as well as other critical biological functions.
CureGRIN and its network of researchers are working with closely with families affected by these disorders to identify insights that could benefit all.
These disorders include:
- GRIA Disorder arises from a disease-causing variant in one of several GRIA genes (GRIA1, GRIA2, GRIA3, GRIA4) that encode the AMPA receptor.
- GRIK Disorder arises from a disease-causing variant in one of several GRIK genes (GRIK1, GRIK2, GRIK3, GRIK4, GRIK5) that encode the kainate receptor.
- GRID Disorder arises from a disease-causing variant in one of two GRID genes (GRID1, GRID2) that encode the delta receptor.
- GRIN Disorder arises from a disease-causing variant in one of several GRIN genes (GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIN3B) that code the NMDA receptor.
Individuals living with these disorders share similar symptoms.
Maximilian's Story:
In 2011, when Maximilian was born, he seemed perfectly healthy. After his first birthday, everything changed. Max started having seizures and was eventually diagnosed with epilepsy. He wasn’t reaching developmental milestones. In 2016, genome sequencing revealed Maximilian’s GRIA4 diagnosis.
Today, at nine years old, Max’s cognitive ability is similar to a child that is two years old. He is mostly non-verbal. Max can walk but has difficulty with balance and coordination. In all aspects of daily life, Max needs intensive support. And yet, Maximilian is a social butterfly. He inspires us every day with his larger than life personality.
