ArticleAnnals of clinical and translational neurology2016
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Article in Annals of clinical and translational neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- Single-Nucleotide Variants in microRNAs Sequences or in their Target Genes Might Influence the Risk of Epilepsy: A Review.Cellular and molecular neurobiology · 2022Review
- Functional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicine · 2022Article
- Influence of epileptogenic region on brain structural changes in Rolandic epilepsy.Brain imaging and behavior · 2022Article
- Regulation of microRNA Expression in Sleep Disorders in Patients with Epilepsy.International journal of molecular sciences · 2021Review
- Altered Sleep-Related Consolidation and Neurocognitive Comorbidity in CECTS.Frontiers in human neuroscience · 2021Review
- The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes.Frontiers in neurology · 2021Article
- Network and Pathway-Based Analysis of Single-Nucleotide Polymorphism of miRNA in Temporal Lobe Epilepsy.Molecular neurobiology · 2019Article
- Protecting Pax6 3' UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model.Molecular therapy. Nucleic acids · 2018Article
- Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.Journal of medical genetics · 2018Article
- Phenotypic analysis of 303 multiplex families with common epilepsies.Brain : a journal of neurology · 2017Article
- Long noncoding RNA and its contribution to autism spectrum disorders.CNS neuroscience & therapeutics · 2017Review
- Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes.Epilepsia open · 2017Article
- Genome annotation for clinical genomic diagnostics: strengths and weaknesses.Genome medicine · 2017Review
- Is a microRNA-328 binding site inAnnals of clinical and translational neurology · 2017Article
- Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?Annals of clinical and translational neurology · 2017Article
- Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.Scientific reports · 2017Article
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Authors and funding
22 authors at 20 institutions in 5 countries.
Funding
Abstract
objectiveRolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in two independent US and Canadian case-control samples. Here, we aimed to find a causative variant for centrotemporal sharp waves using a larger sample and higher resolution genotyping array.
methodsWe fine-mapped the ELP4-PAX6 locus in 186 individuals from rolandic epilepsy families and 1000 population controls of European origin using the Illumina HumanCoreExome-12 v1.0 BeadChip. Controls were matched to cases on ethnicity using principal component analysis. We used generalized estimating equations to assess association, followed up with a bioinformatics survey and literature search to evaluate functional significance.
resultsHomozygosity at the T allele of SNP rs662702 in the 3' untranslated region of PAX6 conferred increased risk of CTS: Odds ratio = 12.29 (95% CI: 3.20-47.22), P = 2.6 × 10(-4) and is seen in 3.9% of cases but only 0.3% of controls.
interpretationThe minor T allele of SNP rs662702 disrupts regulation by microRNA-328, which is known to result in increased PAX6 expression in vitro. This study provides, for the first time, evidence of a noncoding genomic variant contributing to the etiology of a common human epilepsy via a posttranscriptional regulatory mechanism.
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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.