ArticleEpilepsia2022
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Article in Epilepsia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Cys-loop receptors on cannabinoids: All high?Frontiers in physiology · 2022Pooled it
- Targeting Spinal Dorsal Horn Sensitisation in Chronic Pain: Mechanisms and Translational Strategies.Neuroscience bulletin · 2026Review
- The human GABAbioRxiv : the preprint server for biology · 2026Article
- Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.The Journal of clinical investigation · 2026Article
- The human GABAmicroPublication biology · 2026Article
- Phenotypic Spectrum in Individuals With PathogenicNeurology · 2025Article
- Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024Article
- GABAJournal of neurochemistry · 2024Review
- De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.European journal of human genetics : EJHG · 2024Article
- Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Brain : a journal of neurology · 2024Article
- De novo CLPTM1 variants with reduced GABAEpilepsia · 2023Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.