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GRIN database: A unified and manually curated repertoire of GRIN variants.

Human mutation - 1 Jan 2021

García-Recio Adrián, Santos-Gómez Ana, Soto David, Julia-Palacios Natalia, García-Cazorla Àngels, Altafaj Xavier, Olivella Mireia

Abstract excerpt

Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN-related disorders (GRDs), a rare pediatric neurological disorder caused by N-methyl- d-aspartate receptor (NMDAR) dysfunction. Notwithstanding, GRIN variants identification...

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PMID: 33252190
DOI: 10.1002/humu.24141

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