Article

β-hydroxybutyrate improves convulsions in mice carrying the <i>GRIN1</i> Y647S/+ pathogenic variant

2024-08-21

Abstract excerpt

GRIN1 -related neurodevelopmental disorder ( GRIN1 -NDD) is characterized by clinically significant variation in the GRIN1 gene, which encodes the obligatory GluN1 subunit of N-methyl-D-aspartate receptors (NMDARs). The identified p.Tyr647Ser (Y647S) variant is carried by a 34-year-old female with seizures and intellectual disability. This study builds upon initial in vitro investigations of the functional impa...

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Literature Corpus work: d9774b20-3171-5ea6-b0cd-9fe4b86dd79b
DOI: 10.1101/2024.08.21.608984

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β-hydroxybutyrate improves convulsions in mice carrying the <i>GRIN1</i> Y647S/+ pathogenic variantDOI 10.1101/2024.08.21.608984Read

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