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• W4280551405 abstract "De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-year-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole genome sequencing of the proband and his unaffected parents revealed a novel de novo missense variant in GRIA2 (c.1589A>T; p.Lys530Met; ENST00000264426.14). Variants in the GRIA2 gene were recently reported to cause an autosomal dominant neurodevelopmental disorder with language impairments and behavioral abnormalities (OMIM; MIM #618917), a condition characterized by intellectual disability and developmental delay in which seizures are a common feature. The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder." @default.
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• W4280551405 date "2022-05-09" @default.
• W4280551405 modified "2023-10-10" @default.
• W4280551405 title "De novo missense variant in <i>GRIA2</i> in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy" @default.
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• W4280551405 doi "https://doi.org/10.1101/mcs.a006172" @default.
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