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 Fuentes Salvador Ibáñez-MicóLaura CuestaRamón CanchoPatricia Andreo-LilloGema Gutiérrez-AguilarOlga Alonso-LuengoIgnacio MálagaAntonio Hedrera-FernándezÀngels García-CazorlaDavid SotoMireia OlivellaXavier Altafaj

Published 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

copy number
current status
dna methylation