ArticleJournal of neurogenetics2018
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
Article in Journal of neurogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 18 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
- Epilepsy geneiScience · 2023Article
- Analysis of common genetic variation across targets of microRNAs dysregulated both in ASD and epilepsy reveals negative correlation.Frontiers in genetics · 2023Article
- Distinct overlapping functions for Prickle1 and Prickle2 in the polarization of the airway epithelium.Frontiers in cell and developmental biology · 2022Article
- Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.Experimental neurology · 2022Article
- Prickle promotes the formation and maintenance of glutamatergic synapses by stabilizing the intercellular planar cell polarity complex.Science advances · 2021Article
- Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.Molecular genetics & genomic medicine · 2020Article
- Excessive β-Catenin in Excitatory Neurons Results in Reduced Social and Increased Repetitive Behaviors and Altered Expression of Multiple Genes Linked to Human Autism.Frontiers in synaptic neuroscience · 2020Article
- Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.Neurogenetics · 2019Article
- Article
- Linking Cell Polarity to Cortical Development and Malformations.Frontiers in cellular neuroscience · 2019Review
- Abnormal larval neuromuscular junction morphology and physiology inJournal of neurogeneticsArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
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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.