Evidence map›Paper›PMID 40282364›Full record

ReviewGenes2025

SYNGAP1 Syndrome and the Brain Gene Registry.

Melissa R Greco, Maya Chatterjee, Alexa M Taylor, Andrea L Gropman

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Research progress inFrontiers in neurology
    Review
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

4 authors.

Melissa R GrecoDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington, DC 20010, USA.
Maya ChatterjeeDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington, DC 20010, USA.
Alexa M TaylorDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington, DC 20010, USA.ORCID 0000-0001-9868-804X
Andrea L GropmanDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington, DC 20010, USA.

Funding

Harnessing Clinical Genomic Characterization to Accelerate Translational Advances for Patients with IDDU01TR002764 · NCATS · WASHINGTON UNIVERSITY · PI PAYNE, PHILIP R.O. · 2020 to 2023
$5.0M
NCATS NIH HHS U01 TR002764This research was funded by the NIH. 5U01 TR002764
6 · The paper itself

Abstract

backgroundThe human brain relies on complex synaptic communication regulated by key genes such as

conclusionsWhile no FDA-approved treatments exist for SYNGAP1-related disorders, several therapeutic approaches are being investigated. These include taurine supplementation, ketogenic diets, and molecular strategies such as antisense oligonucleotide therapy to restore

Indexed as

BrainIntellectual DisabilityNeurodevelopmental Disordersras GTPase-Activating ProteinsRegistriesEpilepsyHumansras GTPase-Activating ProteinsSYNGAP1 protein, humanbrain gene registryintellectual disabilityneurodevelopmental disorderSYNGAP1

Identifiers

PMID40282364
PMCPMC12026819

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.