Oct 3, 2010 · Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental ...

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6 ...

Nov 20, 2019 · Comparison of clinical phenotypes shows that GRIN2A variants are commonly associated with an epileptic phenotype but that GRIN2B variants are ...

Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on ...

Sep 4, 2024 · Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42( ...

Jul 6, 2024 · Abnormalities in NMDA receptor function or mutations in NMDA receptor genes have been implicated in neurodevelopmental disorders such as autism ...

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Original research article by S ...

Stefanova, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet, 42 ...

“Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable phenotype disorders”, November 2010, by Sabine Endele, et al.

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.