ArticleFrontiers in molecular neuroscience2022
Recessive
Article in Frontiers in molecular neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 32 citations in OpenAlex.
- Haploinsufficiency of brain-specific kinase BRSK1 causes epilepsy and neurodevelopmental disorders.Epilepsia · 2025Article
- Chronic Psychological Stress Induces Cardiomyocyte Hypertrophy Through Corticosterone-Glucocorticoid Receptor-LAMA5 Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
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- MDN1 variants cause susceptibility to epilepsy : For the China Epilepsy Gene 1.0 Project.Acta epileptologica · 2025Article
- Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.American journal of human genetics · 2025Article
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- De NovoHuman mutation · 2025Article
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- Identification of molecular signatures defines the differential proteostasis response in induced spinal and cranial motor neurons.Cell reports · 2024Article
- Endothelial and mural laminin-α5 contributes to neurovascular integrity maintenance.Fluids and barriers of the CNS · 2024Article
- Role ofFrontiers in molecular neuroscience · 2024Article
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- Expanding the phenotypic spectrum ofFrontiers in molecular neuroscience · 2022Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: The Methods: Trios-based whole-exome sequencing was performed in a cohort of 118 infants suffering from focal seizures with or without spasms. Protein modeling was used to assess the damaging effects of variations. The Results: Six pairs of compound heterozygous missense variants in Conclusion: Recessive
Indexed as
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.