Article

Functional Analysis of Human GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders Reveals Distinct Pathological Mechanism

2023-08-17

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 phenoty...

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Literature Corpus work: 04c4a089-1851-58d4-b074-544f2ccda6be
DOI: 10.21203/rs.3.rs-3225866/v1

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