ReviewMolecular and cellular neurosciences2018
Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
Review in Molecular and cellular neurosciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
What it found
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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.
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Who cites it
58 citing papers in PubMed, 100 citations in OpenAlex.
- Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.Molecular psychiatry · 2026Article
- A prospective natural history study protocol for clinical trial readiness in synaptic disorders.Epilepsia · 2026Article
- Missense mutations on SynGAP C2 domain impair membrane diffusion.Protein science : a publication of the Protein Society · 2026Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Disruption of the SYNGAP1 PDZ ligand motif accelerates differentiation of human iPSC-derived GABAergic neurons.bioRxiv : the preprint server for biology · 2026Article
- The Endo-GeneScreen platform identifies drug-like probes that regulate endogenous protein levels within physiological contexts.Nature communications · 2025Article
- AAV delivery of full-length SYNGAP1 rescues epileptic and behavioral phenotypes in a mouse model of SYNGAP1-related disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Clinical signatures of SYNGAP1-related disorders through data integration.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The MNK-SYNGAP1 axis in specific learning disorder: gene expression pattern and new perspectives.European journal of pediatrics · 2025Article
- Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.Molecular genetics & genomic medicine · 2025Article
- Syngap1 promotes cognitive function through regulation of cortical sensorimotor dynamics.Nature communications · 2025Article
- Epigenetic regulation ofFrontiers in psychiatry · 2025Article
- DevelopmentalThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Subjective sleep assessment in individuals withJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- Haploinsufficiency ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Article
- Native-state proteomics of Parvalbumin interneurons identifies unique molecular signatures and vulnerabilities to early Alzheimer's pathology.Nature communications · 2024Article
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.Frontiers in psychiatry · 2024Review
- Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.Frontiers in molecular neuroscience · 2024Review
- Mutations in the postsynaptic density signaling hub TNIK disrupt PSD signaling in human models of neurodevelopmental disorders.Frontiers in molecular neuroscience · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. While there are hundreds of genetic risk factors for neurodevelopmental disorders (NDDs), this gene is somewhat unique because of the frequency and penetrance of loss-of-function variants found in patients combined with the range of brain disorders associated with SYNGAP1 pathogenicity. These clinical findings indicate that SYNGAP1 regulates fundamental neurodevelopmental processes that are necessary for brain development. Here, we describe four phenotypic domains that are controlled by Syngap1 expression across vertebrate species. Two domains, the maturation of cognitive functions and maintenance of excitatory-inhibitory balance, are defined exclusively through a review of the current literature. Two additional domains are defined by integrating the current literature with new data indicating that SYNGAP1/Syngap1 regulates innate survival behaviors and brain structure. These four phenotypic domains are commonly disrupted in NDDs, suggesting that a deeper understanding of developmental Syngap1 functions will be generalizable to other NDDs of known or unknown etiology. Therefore, we discuss the known molecular and cellular functions of Syngap1 and consider how these functions may contribute to the emergence of disease-relevant phenotypes. Finally, we identify major unexplored areas of Syngap1 neurobiology and discuss how a deeper understanding of this gene may uncover general principles of NDD pathobiology.
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Registered trials
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.