Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers

• Autores principales: Jenna R. Gale (Autor), Gabrielle J. Kosobucki (Autor), Karen A. Hartnett-Scott (Autor), Elias Aizenman (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with severe epilepsy and developmental delay. This missense...