ArticleNeurology. Genetics2026
Characterization of a Splice Variant in
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Periventricular nodular heterotopia (PNH) is a neuronal migration disorder caused by the failure of neurons to migrate properly to the cerebral cortex, characterized predominantly by epilepsy. Most PNH cases are associated with variants in Methods: Whole-exome sequencing (WES) was performed on genomic DNA isolated from the peripheral blood. Mosaicism levels were quantified using droplet digital PCR (ddPCR), transcriptomic alterations were analyzed by RNA sequencing (RNA-seq), and splicing defects were investigated via a minigene splicing assay. Results: WES analysis identified a novel splicing variant (NM_001110556.2: c.4599-2A > G) in the Discussion: This study expands the phenotypic and genetics spectrum of PNH and demonstrates a dual PNH phenotype with a bi-transcript mechanism. It also provides clinical evidence of mosaic inheritance and tissue-specific mosaicism, offering valuable implications for genetic counseling and prenatal diagnosis.
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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.