ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience1998
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 171 papers, 1 of them a synthesis that pooled 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.
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
171 citing papers in PubMed, 1 synthesis or guideline pooled it, 454 citations in OpenAlex.
- Motor coordination in autism spectrum disorders: a synthesis and meta-analysis.Journal of autism and developmental disorders · 2010Pooled it
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- Genetic variability in glutamic acid decarboxylase genes: associations with post-traumatic seizures after severe TBI.Epilepsy research · 2013Trial
- Article
- Cannabidiol reduces atypical absence seizures and epileptic spasms in a Gabrb3Epilepsia open · 2026Article
- Dose-effect analysis of 6-APB ("Benzofury") on fear memory, motor behavior, and reward.Psychopharmacology · 2026Article
- Neuid: A Novel Neuron-Enriched LncRNA that Connects Epigenetic Gene Silencing to Alzheimer's Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Phosphorylation of GABAScientific reports · 2025Article
- Biologically realistic mean field model of spiking neural networks with fast and slow inhibitory synapses.Journal of computational neuroscience · 2025Article
- Genetic Animal Models of Idiopathic Generalized Epilepsies: What Can We Learn from Them?Biomedicines · 2025Review
- Autism spectrum disorder related phenotypes in a mouse model lacking the neuronal actin binding protein profilin 2.Frontiers in cellular neuroscience · 2025Article
- Early postnatal exposure to bicuculline modulates E/I balance and induces ASD-like behavioral phenotypes in mice.Animal cells and systems · 2025Article
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- Molecular Mechanisms Underlying the Generation of Absence Seizures: Identification of Potential Targets for Therapeutic Intervention.International journal of molecular sciences · 2024Review
- Mechanisms of neurodevelopmental toxicity of topiramate.Critical reviews in toxicology · 2024Review
- A clinical-translational review of sleep problems in neurodevelopmental disabilities.Journal of neurodevelopmental disorders · 2024Review
- Phenols and GABAFrontiers in pharmacology · 2024Review
- Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.Experimental neurology · 2023Article
- A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.Communications biology · 2023Article
- GABAInternational journal of molecular sciences · 2023Article
111 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Angelman syndrome (AS) is a severe neurodevelopmental disorder resulting from a deletion/mutation in maternal chromosome 15q11-13. The genes in 15q11-13 contributing to the full array of the clinical phenotype are not fully identified. This study examines whether a loss or reduction in the GABAA receptor beta3 subunit (GABRB3) gene, contained within the AS deletion region, may contribute to the overall severity of AS. Disrupting the gabrb3 gene in mice produces electroencephalographic abnormalities, seizures, and behavior that parallel those seen in AS. The seizures that are observed in these mice showed a pharmacological response profile to antiepileptic medications similar to that observed in AS. Additionally, these mice exhibited learning and memory deficits, poor motor skills on a repetitive task, hyperactivity, and a disturbed rest-activity cycle, features all common to AS. The loss of the single gene, gabrb3, in these mice is sufficient to cause phenotypic traits that have marked similarities to the clinical features of AS, indicating that impaired expression of the GABRB3 gene in humans probably contributes to the overall phenotype of Angelman syndrome. At least one other gene, the E6-associated protein ubiquitin-protein ligase (UBE3A) gene, has been implicated in AS, so the relative contribution of the GABRB3 gene alone or in combination with other genes remains to be established.
Indexed as
Identifiers
9763493PMC6792844W2141896877What 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.