L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Krey, Ilona; von Spiczak, Sarah; Johannesen, Kathrine M.; Hikel, Christiane; Kurlemann, Gerhard; Muhle, Hiltrud; Beysen, Diane; Dietel, Tobias; Møller, Rikke S.; Lemke, Johannes R.; Syrbe, Steffen

doi:10.1007/s13311-021-01173-9

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF variants with co-agonists of the NMDAR. In this …