ArticleAnnals of neurology2016
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Article in Annals of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
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- Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors ofiScience · 2023Article
- GABAInternational journal of molecular sciences · 2023Article
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- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Shisa7-Dependent Regulation of GABAThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
Corrections and comments
- Commented on byReply.2016
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveThe Epi4K Consortium recently identified 4 de novo mutations in the γ-aminobutyric acid type A (GABA
methodsGABA
resultsLGS-associated GABRB3(D120N, E180G, Y302C) mutations located at β
interpretationAll 5 de novo GABRB mutations impaired GABA
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.