ArticleAmerican journal of human genetics2022
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 27 citations in OpenAlex.
- Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.Brain : a journal of neurology · 2026Article
- Leukocytes Transcriptome Analysis of Genes Associated with Epilepsy Duration and Age of Onset.Molecular neurobiology · 2026Article
- Functional and structural basis of a negative allostery within GABANature communications · 2026Article
- Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.NPJ genomic medicine · 2026Article
- GABA-independent activation of GABANature communications · 2025Article
- Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.Genome medicine · 2025Article
- Genome-wide methylome-based molecular pathologies associated with depression and suicide.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Article
- Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants inFrontiers in pediatrics · 2025Article
- Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAFrontiers in molecular neuroscience · 2025Review
- Genetic implication of GABAFrontiers in pharmacology · 2025Review
- Monoallelic de novoScience advances · 2024Article
- Article
- Pharmacological effects and target analysis of Guipi wan in the treatment of cerebral ischemia-reperfusion injury.Frontiers in pharmacology · 2024Article
- A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.Human genome variation · 2023Article
- Inhibitory Synaptic Influences on Developmental Motor Disorders.International journal of molecular sciences · 2023Review
- Article
- Characterization of aFrontiers in molecular neuroscience · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
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.