ArticleAnnals of clinical and translational neurology2019
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Antecedent enhancer activity predicts future susceptibility to seizures in mice.Nature communications · 2026Article
- Clinical phenotype and genotype of children with GABAFrontiers in neurology · 2022Article
- Rare variants in the GABAMolecular genetics & genomic medicine · 2020Article
- Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.Frontiers in neurology · 2020Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation, we report monozygotic twin sisters with generalized epilepsy due to the c.541C>T; p.(Pro181Ser) de novo variant in GABRA1. One experienced juvenile absence seizures promptly responding to first-line medication, whereas the second developed severe treatment-refractory epilepsy with febrile, absence, atonic, and tonic-clonic seizures indicating marked intrafamilial variability in GABRA1-related epilepsy. Moreover, we provide a molecular characterization of the novel variant based on recently published structural data.
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