ArticleFrontiers in neuroscience2026
A novel
Article in Frontiers in neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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Authors and funding
9 authors.
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Abstract
Objective: This study aims to investigate the clinical phenotype and genetic etiology of a case of Ververi-Brady syndrome (VBS) with infantile epileptic spasms syndrome (IESS) caused by a novel Methods: Clinical data were retrospectively collected from a pediatric patient admitted to Hunan Children's Hospital on July 28, 2025, due to intermittent nodding episodes for 10 days. Trio-based whole-exome sequencing (trio-WES) was performed for the proband and his parents. Candidate variants were validated by Sanger sequencing and assessed for pathogenicity. Relevant literature was reviewed to summarize genotype-phenotype correlations. Results: The patient, a 5-month-and-22-day-old male infant, presented with facial dysmorphism, global developmental delay, and IESS. After treatment with adrenocorticotropic hormone (ACTH) and vigabatrin, seizures were fully controlled and developmental outcomes improved. Trio-WES identified a novel heterozygous frameshift variant in the Conclusion:
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