ArticleHuman mutation2026
Novel
Article in Human mutation, 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
- NovelHuman mutation · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The Methods: Whole-exome sequencing (WES) was performed in unrelated families, and we systematically reviewed existing patient data on Results: This study reports five patients with ALG13 variants, including two novel variants. Four patients presented with epilepsy accompanied by neurodevelopmental impairment, including infantile epileptic spasms syndrome (IESS) and drug-resistant epilepsy, whereas one patient showed developmental delay without seizures. Further analysis revealed that variants identified in patients with isolated developmental delay were primarily located outside the key glycosylation functional domain. Statistical analysis of patients with epileptic encephalopathy showed that infantile-onset seizures were the predominant feature, with most cases being refractory to treatment. Additionally, in organoids, the highest Conclusions:
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Identifiers
What OpenQuestion holds
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.