ArticleFrontiers in neurology2022
Clinical phenotype and genotype of children with GABA
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- 4-Phenylbutyrate Rescue inCells · 2026Article
- 4-Phenylbutyrate Rescue inbioRxiv : the preprint server for biology · 2026Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.Epilepsy & behavior : E&B · 2025Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.medRxiv : the preprint server for health sciences · 2025Article
- Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024Article
- GABAJournal of neurochemistry · 2024Review
- Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.Heliyon · 2023Article
- Clinical phenotypic and genotypic characterization ofFrontiers in neurology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants. Methods: Eight epilepsy patients, who were admitted to Qilu Hospital of Shandong University from 2015 to 2021, were enrolled in the study. GABRA1 gene variants were detected by whole-exome sequencing. Epilepsy clinical manifestations, electroencephalography, neuroimaging characteristics and treatment methods were retrospectively analyzed. Results: Among the eight patients, four were males and four were females. Epilepsy onset age was between 3 and 8 months of age. Two patients had a family history of epilepsy. Six cases were Conclusion:
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Registered trials
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