GRIN2A mutation and early-onset epileptic encephalopathy: Personalized therapy with memantine
Original research article by T.M. Pierson et al. (2014)
Read the article here.
The GRIN2A gene encodes for proteins that are linked to signaling pathways in the brain. These proteins have an important role in brain development, learning and memory, and signaling within the brain. GRIN2A has been associated with diagnoses of epilepsy, developmental delay, and intellectual disability.
In this article, researchers describe one child with a de novo change (a change not found in either parent) in the GRIN2A gene. Identified through the National Institutes of Health (NIH) Undiagnosed Diseases program, the 6-year-old boy had a history of early-onset epileptic encephalopathy and profound global developmental delay, having not reached any developmental milestones. He was reported to have daily seizures that did not respond to medication. His brain MRI showed a loss of volume and brain tissue.
The researchers suggest that the change in GRIN2A has hindered the ability of the proteins associated with the gene to function properly. The study suggests that it may be reasonable to consider a broad genetic test, such as whole-exome sequencing, to analyze genes not typically included in targeted panels.