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Background
Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.
Objective
To describe a new and consistent phenotype in 4 affected male patients associated...
Background: Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon‐1) subunit of the N‐methyl‐d‐aspartate receptor, have been identified in patients with epilepsy‐aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have...
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