Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Ana Santos-GómezFederico Miguez-CabelloNatalia Juliá-PalaciosDeyanira García-NavasVíctor Soto-InsugaJuan J García-PeñasPatricia FuentesSalvador Ibáñez-MicóLaura CuestaRamón CanchoPatricia Andreo-LilloGema Gutiérrez-AguilarOlga Alonso-LuengoIgnacio MálagaAntonio Hedrera-FernándezÀngels García-CazorlaDavid SotoMireia OlivellaXavier AltafajPublished in: International journal of molecular sciences (2021)
Our findings show a strong correlation between GRIN1 variants-associated structural and functional outcomes. This structural-functional stratification provides relevant insights of genotype-phenotype association, contributing to future precision medicine of GRIN1-related encephalopathies.
Keyphrases