Topic: Grin1Q536R/+

GRIN1 disorder is a neurodevelopmental disorder characterized by variation to the Grin1 gene; responsible for coding the obligatory GluN1 subunit of NMDA receptors. Individuals with GRIN1 disorder display developmental delay and speech is absent in almost half of patients. The Grin1Y647S/+ patient variant occurs within the M3 transmembrane domain of GluN1 and the patient displays limited speech consisting of 5-10 words. The Grin1Q536R/+ patient variant occurs in the S1 segment of the ligand binding domain of GluN1 and the patient has active speech with a relatively large vocabulary. We aimed t