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- Title
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
- Authors
den Hollander, B; Veenvliet, A R J; Rothuizen-Lindenschot, M; van Essen, P; Peters, G; Santos-Gómez, A; Olivella, M; Altafaj, X; Brands, M M; Jacobs, B A W; van Karnebeek, C D
- Abstract
To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B subunit-containing N-methyl-d-aspartate receptor (NMDAR). Recently, in vitro experiments showed that high doses of NMDAR co-agonist d-serine has the potential to boost the activity in GluN2B LoF variant-containing NMDARs. Initial reports of GRIN2B-NDD patients LoF variants, treated with l-serine using different regimens, showed varying effects on motor and cognitive performance, communication, behavior and EEG. Here, this novel treatment using a standardized protocol with an innovative developmental outcome measure is explored further in an open-label observational GRIN2B-NDD study.
- Publication
Molecular genetics and metabolism, 2023, Vol 138, Issue 3, p107523
- ISSN
1096-7206
- Publication type
Journal Article
- DOI
10.1016/j.ymgme.2023.107523