ArticleScientific reports2020
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- The role of γ-aminobutyric acid and its receptor in metabolic reprogramming and tumor progression.Biochemistry and biophysics reports · 2026Review
- Dysregulation of MiRNAs in schizophrenia in an Egyptian patient population.Scientific reports · 2025Article
- Proteostasis regulation of GABABiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025Review
- GABAJournal of neurochemistry · 2024Review
- GABA system as the cause and effect in early development.Neuroscience and biobehavioral reviews · 2024Review
- Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Brain : a journal of neurology · 2024Article
- Implications of SNP-triggered miRNA dysregulation in Schizophrenia development.Frontiers in genetics · 2024Review
- Structural variation of the coding and non-coding human pharmacogenome.NPJ genomic medicine · 2023Article
- Identification of key genes and signaling pathways associated with dementia with Lewy bodies and Parkinson's disease dementia using bioinformatics.Frontiers in neurology · 2023Article
- Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Nature communications · 2022Article
- A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.Epilepsia · 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
- Clinical phenotype and genotype of children with GABAFrontiers in neurology · 2022Article
- Gain-of-functionBrain communications · 2020Article
- Characterization of the zebrafish gabra1Differentiation; research in biological diversityArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABA
Indexed as
Identifiers
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.