Publications

GRIA1: No publications yet regarding the genes role in mendelian disorders. Papers under review.

GRIA2:
Salpietro V et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094. doi: 10.1038/s41467-019-10910-w. PMID: 31300657.

GRIA3:
Sun JH et al. X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. PLoS Genet. 2021;17(6):e1009608. doi: 10.1371/journal.pgen.1009608. eCollection 2021. PMID: 34161333.

Trivisano M et al. GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.Seizure. 2020;82:1-6. doi: 10.1016/j.seizure.2020.08.032. Epub 2020. PMID: 32977175.

Piard J et al. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Mov Disord. 2020;35(7):1224-1232. doi: 10.1002/mds.28058. Epub 2020. PMID: 32369665.

Davies B et al. A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. Hum Mol Genet. 2017;26(20):3869-3882. doi: 10.1093/hmg/ddx270. PMID: 29016847.

GRIA4:
Martin S et al. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet. 2017. 101(6):1013-1020 PMID: 29220673.