ReviewJournal of neurodevelopmental disorders2018
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
Review in Journal of neurodevelopmental disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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.
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.
Who cites it
28 citing papers in PubMed, 55 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
- The Synaptic Clock: SynGAP1 as a Molecular Timer of Postsynaptic Density Consolidation.Biomolecules · 2026Review
- Disruption of the SYNGAP1 PDZ ligand motif accelerates differentiation of human iPSC-derived GABAergic neurons.bioRxiv : the preprint server for biology · 2026Article
- SYNGAP1 Syndrome and the Brain Gene Registry.Genes · 2025Review
- Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability.Translational psychiatry · 2024Article
- Behavioural and neurodevelopmental characteristics of SYNGAP1.Journal of neurodevelopmental disorders · 2024Article
- Hyperexcitability and translational phenotypes in a preclinical mouse model ofResearch square · 2024Article
- Context-dependent hyperactivity inFrontiers in molecular neuroscience · 2024Article
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.Frontiers in psychiatry · 2024Review
- NovelMolecular syndromology · 2023Article
- Hyperexcitability and translational phenotypes in a preclinical model ofResearch square · 2023Article
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review.Acta epileptologica · 2023Article
- A Literature Review of Similarities Between and Among Patients With Autism Spectrum Disorder and Epilepsy.Cureus · 2023Review
- Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2022Article
- Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description.Journal of neurodevelopmental disorders · 2022Article
- EndogenouseLife · 2022Article
- Sensory Processing Phenotypes in Phelan-McDermid Syndrome andBrain sciences · 2022Article
- Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused byFrontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY: A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments. The meeting focused on developing a consensus among all stakeholders as to how best to achieve a more fundamental and profound understanding of SYNGAP1 biology and its role in human disease. SHORT
conclusionFrom all of these proceedings, several areas of consensus emerged. The clinicians and geneticists agreed that the prevalence of epilepsy and sensory processing impairments in SYNGAP1-related brain disorders approached 100%. The neurobiologists agreed that more basic research is needed to better understand the molecular and cellular functions of the Syngap1 gene, which will lead to targets for therapeutic intervention. Finally, everyone agreed that there is a pressing need to form a robust patient registry as an initial step toward a prospective natural history study of patients with pathogenic SYNGAP1 variants.
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What OpenQuestion holds
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.