GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications
This study reports five novel GRIN2B variants and seven additional patients. Notably, it is the first report to distinguish between GOF and LOF GRIN2B variants, which have distinct clinical phenotypes. Furthermore, memantine has been shown to be effective in controlling seizures and improving cognition.
Authors
- Miriam Kessi (ORCID: https://orcid.org/0000-0002-7932-9292)
- Jing Peng (ORCID: https://orcid.org/0000-0002-7752-6962)
- Fang He (ORCID: https://orcid.org/0000-0002-7627-0424)
- Changning Xie (ORCID: https://orcid.org/0000-0002-9356-2189)
- Fangyun Liu
Institutions
- Central South University (CN)
- Education Department of Hunan Province (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1186/s13023-025-04055-x
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82