Article

Differential Functional Consequences of <i>GRIN2A</i> Mutations Associated with Schizophrenia and Neurodevelopmental Disorders

2023-08-03

Abstract excerpt

Human genetic studies have revealed rare missense and protein-truncating variants in GRIN2A , encoding for the GluN2A subunit of the NMDA receptors, that confer significant risk for schizophrenia (SCZ). Mutations in GRIN2A are also associated with epilepsy and developmental delay/intellectual disability (DD/ID). However, it remains enigmatic how alterations to the same protein can result in diverse clinical phen...

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Literature Corpus work: 9f955653-55ac-5072-8951-007a9d33497d
DOI: 10.1101/2023.08.02.551645

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