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A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: functional characterization and targeted treatment

2022-03-04

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AMPA-type glutamate receptors (AMPARs) are tetrameric ligand-gated ion channels formed as different combinations of GluA1-4 subunits encoded by the genes GRIA1-4 . Various pathogenic variants of these genes have been described in patients with developmental delay, intellectual disability, autistic spectrum disorder and seizures. Here we report a heterozygous de novo pathogenic missense mutation in GRIA2 (c.1928 C>...

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Literature Corpus work: c4491891-fd81-517f-8a41-bdd27b5b4c3a
DOI: 10.1101/2022.03.01.22271646

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A gain-of-function <i>GRIA2</i> variant associated with neurodevelopmental delay and seizures: functional characterization and targeted treatment

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