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GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications

Overview

Authors: Changning Xie1, Miriam Kessi1, Fangyun Liu1, Fang He1, Jing Peng1,2
ORCID iDs: Changning Xie, Miriam Kessi, Fang He, Jing Peng
  1. Department of Pediatrics, Xiangya Hospital, Central South University,Xiangya Road 87, Changsha, Hunan 410008 China
  2. Hunan Intellectual and Development Disabilities Research Center, Changsha, Hunan 410008 China
Institutions: Xiangya Hospital Central South University (China)
Journal: n/a, volume 20, issue 1, article 541
Dates: received 23 February 2025; accepted 16 September 2025; published online 27 October 2025
Type: Research article · Language: English
License: none stated
Identifiers: DOI 10.1186/s13023-025-04055-x · PMCID PMC12560415 · OpenAlex W4415585064
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), human (organism), other condition (population), epilepsy (population), developmental (subfield)
Methods: Statistics
Keywords: GRIN2B, Neurodevelopmental disorders, Phenotype-genotype associations, Gain-of-function, Loss-of-function
MeSH: Neurodevelopmental Disorders*, Receptors, N-Methyl-D-Aspartate*, Adolescent, Child, Child, Preschool, Epilepsy, Female, Genetic Association Studies, Genotype, Humans, Infant, Male, Phenotype (* major topic)
Topic: Genomics and Rare Diseases (Genetics, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: National Natural Science Foundation of China (National Science Foundation of China) (NO.82071462)
Citations: not cited yet (Europe PMC); 55 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (none stated) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

Datasets cited

Data availability statement

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  • it says that the data are available on request

Read it in the paper: doi.org/10.1186/s13023-025-04055-x.

Versions

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 5 authors, 5 keywords, 13 MeSH terms, 1 funder, 55 references.

Cite

This paper

Xie, C., Kessi, M., Liu, F., He, F., & Peng, J. (2025). GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications. Orphanet Journal of Rare Diseases, 20(1), 541. https://doi.org/10.1186/s13023-025-04055-x

BibTeX

@article{xie2025grin2b,
author = {Xie, Changning and Kessi, Miriam and Liu, Fangyun and He, Fang and Peng, Jing},
title = {{GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications}},
journal = {Orphanet Journal of Rare Diseases},
year = {2025},
volume = {20},
number = {1},
pages = {541},
publisher = {BMC},
issn = {1750-1172},
doi = {10.1186/s13023-025-04055-x},
url = {https://doi.org/10.1186/s13023-025-04055-x},
pmcid = {PMC12560415}
}

RIS

TY - JOUR
AU - Xie, Changning
AU - Kessi, Miriam
AU - Liu, Fangyun
AU - He, Fang
AU - Peng, Jing
TI - GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications
T2 - Orphanet Journal of Rare Diseases
J2 - Orphanet J Rare Dis
PY - 2025
DA - 2025
VL - 20
IS - 1
SP - 541
SN - 1750-1172
PB - BMC
DO - 10.1186/s13023-025-04055-x
UR - https://doi.org/10.1186/s13023-025-04055-x
LA - en
ER -

CSL-JSON

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"container-title-short": "Orphanet J Rare Dis",
"volume": "20",
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"language": "en",
"issued": {
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