ArticleDisease models & mechanisms2013
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Article in Disease models & mechanisms, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 49 citations in OpenAlex.
- Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?Journal of neuroscience research · 2026Review
- Treating Epilepsy with Natural Products: Nonsense or Possibility?Pharmaceuticals (Basel, Switzerland) · 2023Review
- Zebrafish as an Innovative Tool for Epilepsy Modeling: State of the Art and Potential Future Directions.International journal of molecular sciences · 2023Review
- Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.International journal of molecular sciences · 2023Review
- Toward the use of novel alternative methods in epilepsy modeling and drug discovery.Frontiers in neurology · 2023Review
- Zebrafish Model to Study Podocyte Function Within the Glomerular Filtration Barrier.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.Journal of clinical laboratory analysis · 2022Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Evolution of inwardly rectifying potassium channels and their gene expression in zebrafish embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Manipulating Galectin Expression in Zebrafish (Danio rerio).Methods in molecular biology (Clifton, N.J.) · 2022Review
- Zebrafish Models of Autosomal Recessive Ataxias.Cells · 2021Review
- A Meta-Analysis of Bioelectric Data in Cancer, Embryogenesis, and Regeneration.Bioelectricity · 2021Article
- Article
- Zebrafish as a model for kidney function and disease.Pediatric nephrology (Berlin, Germany) · 2019Review
- Review
- Synaptically silent sensory hair cells in zebrafish are recruited after damage.Nature communications · 2018Article
- Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Journal of the American Society of Nephrology : JASN · 2018Review
- Brain activity patterns in high-throughput electrophysiology screen predict both drug efficacies and side effects.Nature communications · 2018Article
- Potential and pitfalls in the genetic diagnosis of kidney diseases.Clinical kidney journal · 2017Article
- Of dogs and men.European journal of human genetics : EJHG · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and is therefore not suitable for drug discovery. Because zebrafish are ideal for in vivo screening for potential therapeutics, we tested whether kcnj10 knockdown in zebrafish would fill this need. We cloned zebrafish kcnj10 and demonstrated that its function is equivalent to that of human KCNJ10. We next injected splice- and translation-blocking kcnj10 antisense morpholino oligonucleotides and reproduced the cardinal symptoms of EAST syndrome - ataxia, epilepsy and renal tubular defects. Several of these phenotypes could be assayed in an automated manner. We could rescue the morphant phenotype with complementary RNA (cRNA) encoding human wild-type KCNJ10, but not with cRNA encoding a KCNJ10 mutation identified in individuals with EAST syndrome. Our results suggest that zebrafish will be a valuable tool to screen for compounds that are potentially therapeutic for EAST syndrome or its individual symptoms. Knockdown of kcnj10 represents the first zebrafish model of a salt-losing tubulopathy, which has relevance for blood pressure control.
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.