ArticleBrain communications2020
Gain-of-function
Open access · goldAbstract read
In one paragraph
Article in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
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
20 citing papers in PubMed, 35 citations in OpenAlex.
- Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity.Translational psychiatry · 2026Article
- Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Epilepsia · 2026Article
- RO4938581, a GABAMolecular psychiatry · 2026Article
- βInternational journal of molecular sciences · 2025Article
- Phenotypic Spectrum in Individuals With PathogenicNeurology · 2025Article
- Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.Italian journal of pediatrics · 2025Article
- Novel Spiro-Barbiturates Can Reverse the Action of General Anesthetics on the GABAJournal of medicinal chemistry · 2025Article
- Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024Article
- GABAJournal of neurochemistry · 2024Review
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes · 2024Review
- Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Brain : a journal of neurology · 2024Article
- Epileptic EncephalopathyBiomolecules · 2023Article
- Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.Annals of clinical and translational neurology · 2023Article
- Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABANeuropharmacology · 2022Article
- Molecular and clinical descriptions of patients with GABAEpilepsia · 2022Review
- Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.Journal of neurology · 2022Article
- Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Nature communications · 2022Article
- Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.International journal of molecular sciences · 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
21 authors at 6 institutions in 4 countries.
Nathan L AbsalomFaculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Vivian W Y LiaoFaculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Kavitha KothurKids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Dinesh C IndurthiFaculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Bruce BennettsDepartment of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Christopher TroedsonT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Shekeeb S MohammadKids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.ORCID 0000-0003-1219-4781
Sachin GuptaT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Iain S McGregorFaculty of Science, Lambert Initiative for Cannabinoid Therapeutics, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Michael T BowenFaculty of Science, Lambert Initiative for Cannabinoid Therapeutics, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Damien LedererInstitute of Pathology and Genetics, Center for Human Genetics, Gosselies 6041, Belgium.
Sandrine MaryInstitute of Pathology and Genetics, Center for Human Genetics, Gosselies 6041, Belgium.
Liesbeth De WaeleDepartment of Development and Regeneration, KULeuven, Leuven 3000, Belgium.
Katrien JansenDepartment of Development and Regeneration, KULeuven, Leuven 3000, Belgium.
Deepak GillKids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Manju A KurianMolecular Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1E 6BT, UK.
Amy McTagueMolecular Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1E 6BT, UK.
Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
Philip K AhringFaculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Russell C DaleKids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
Mary ChebibFaculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
The University of Sydney · AUChildren's Hospital at Westmead · AUGreat Ormond Street Hospital · GBInstitute of Pathology and Genetics · BEKU Leuven · BEUniversity of Southern Denmark · DK
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MDepartment of Health RP-2016-07-019Medical Research Council MR/T007087/1NHGRI NIH HHS UM1 HG008900
Abstract
Variants in the
Indexed as
benzodiazepinesdevelopmental and epileptic encephalopathiesGABAA receptorgain-of-function variantsvigabatrin
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
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.