Evidence map›Paper›PMID 31918992›Full record

ReviewEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2020

GRIN2D/GluN2D NMDA receptor: Unique features and its contribution to pediatric developmental and epileptic encephalopathy.

Chad R Camp, Hongjie Yuan

Open access · greenAbstract readReview
In one paragraph

Review in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
2.5field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 52 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Gut microbiota mediates semaglutide attenuation of diabetes-associated cognitive decline.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Chad R CampDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Hongjie YuanDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, 30322, USA. Electronic address: hyuan@emory.edu.
Emory University · US

Funding

NMDAR Mutations & Neurodevelopmental Disorder: from Mechanism to Targeted TherapyR01HD082373 · NICHD · EMORY UNIVERSITY · PI YUAN, HONGJIE · 2015 to 2025
$3.3M
NICHD NIH HHS R01 HD082373
6 · The paper itself

Abstract

N-methyl-d-aspartate receptors (NMDARs), a subset of ligand-gated ionotropic glutamate receptors, are critical for learning, memory, and neuronal development. However, when NMDAR subunits are mutated, a host of neuropathological conditions can occur, including epilepsy. Recently, genetic variation within the GRIN2D gene, which encodes the GluN2D subunit of the NMDAR, has been associated with a set of early-onset neurological diseases, notably developmental and epileptic encephalopathy (DEE). Importantly, patients with GRIN2D variants are largely refractory to conventional anti-epileptic drug (AED) treatment, highlighting the need to further understand the distinctive characteristics of GluN2D in neurological and pathological functions. In this review, we first summarize GluN2D's unique spatial and temporal expression patterns, electrophysiological profiles, and contributions to both pre- and postsynaptic signaling. Next, we review thirteen unique case studies from DEE patients harboring ten different causal GRIN2D variants. These patients are highly heterogenous, manifesting multiple seizure types, electroencephalographic recordings, and neurological and developmental outcomes. Lastly, this review concludes by highlighting the difficulty in treating patients with DEE-associated GRIN2D variants, and stresses the need for selective therapeutic agents delivered within a precise time window.

Indexed as

ChildHumansInfantReceptors, N-Methyl-D-AspartateSpasms, InfantileGRIN2D protein, humanReceptors, N-Methyl-D-AspartateAutismChannelopathyDevelopmental and epileptic encephalopathyDevelopmental delayEpilepsyGlutamate receptorIntellectual disabilityPrecision medicineTranslational study

Identifiers

PMID31918992
PMCPMC7035963
OpenAlexW2995117747

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.