GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Original research article by J.R. Lemke et al. (2014)

Read the abstract here.

GRINB2 is a gene that has been identified in people with intellectual disability, autism spectrum disorders and schizophrenia, and has been considered to be involved with seizures. In this study, 357 people with epileptic disorders and/or intellectual disability (ID) were evaluated for changes in 50 genes known to be associated with seizures, including GRIN2B. Three people in this study were found to have genetic changes in GRIN2B, two of these people had unexplained epilepsy, and one had ID and childhood onset focal epilepsy.