ArticleJournal of neurogenetics2015
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
Article in Journal of neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.International journal of molecular sciences · 2021Article
- Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.Neurogenetics · 2019Article
- Whole-Exome Sequencing Revealed Mutations ofFrontiers in genetics · 2019Article
- Linking Cell Polarity to Cortical Development and Malformations.Frontiers in cellular neuroscience · 2019Review
- Article
- A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.Journal of neurogenetics · 2018Article
- Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. Subsequently, several studies have identified neurological abnormalities in animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologues, including epilepsy in flies and in mice with heterozygous PRICKLE1 mutations. We describe a fetus with a novel de novo mutation in PRICKLE1 associated with agenesis of the corpus callosum.
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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.