ArticleFrontiers in neurology2023
Clinical phenotypic and genotypic characterization of
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Article
- Initial negative imaging in GATOR1-associated genetic epilepsy does not preclude the existence of a focal, resectable epileptogenic zone: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy.Molecular genetics & genomic medicine · 2026Article
- Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.American journal of human genetics · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- NovelFrontiers in neuroscience · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- From Alpha-Thalassemia Trait toGenes · 2024Article
- Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.Frontiers in neurology · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: As one of the assembly factors of the GATOR1 protein complex in the mechanism of rapamycin pathway, NPRL3 plays an important role in the pathogenesis of epilepsy. However, the correlation between genotype and clinical phenotype in patients with Methods: A total of 11 Chinese children with Results: Among the 11 children, eight have not been reported, and two of them presented infantile spasms (ISs) as a new phenotype of Conclusion:
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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.