ArticleAnnals of neurology2018
Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Molecular Signature in Focal Cortical Dysplasia: A Systematic Review of RNA and Protein Data.International journal of molecular sciences · 2025Pooled it
- Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms.Acta epileptologica · 2025Review
- Using integrative bioinformatics approaches and machine-learning strategies to identify potential signatures for atrial fibrillation.International journal of cardiology. Heart & vasculature · 2025Article
- Complex genomic rearrangement with deletion ofMolecular vision · 2024Review
- Multimodal mapping of regional brain vulnerability to focal cortical dysplasia.Brain : a journal of neurology · 2023Article
- Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: Insights into pathophysiology and tissue characterization.Frontiers in neurology · 2023Article
- Pathogenesis and Therapeutic Targets of Focal Cortical Dysplasia Based on Bioinformatics Analysis.Neurochemical research · 2022Article
- KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.Pediatric research · 2022Article
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
- Circuit formation in the adult brain.The European journal of neuroscience · 2022Review
- Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.Journal of neurochemistry · 2022Review
- CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.International journal of molecular sciences · 2022Review
- Benchmarking the proteomic profile of animal models of mesial temporal epilepsy.Annals of clinical and translational neurology · 2022Article
- Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.International journal of molecular sciences · 2022Review
- Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia.Brain pathology (Zurich, Switzerland) · 2021Article
- MicroRNAs as regulators of brain function and targets for treatment of epilepsy.Nature reviews. Neurology · 2020Review
- Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.Frontiers in neuroscience · 2020Article
- miR-34a in Neurophysiology and Neuropathology.Journal of molecular neuroscience : MN · 2019Review
- Pathophysiological functions of Rnd proteins.Small GTPasesReview
Corrections and comments
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFocal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work, we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II.
methodsWe used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. MicroRNA expression was initially assessed by microarray. Quantitative polymerase chain reaction, in situ hybridization, luciferase reporter assays, and deep sequencing for genes in the mTOR pathway were performed to validate and further explore our initial study.
resultshsa-let-7f (p = 0.039), hsa-miR-31 (p = 0.0078), and hsa-miR34a (p = 0.021) were downregulated in FCD type II, whereas a transcription factor involved in neuronal and glial fate specification, NEUROG2 (p < 0.05), was upregulated. We also found that the RND2 gene, a NEUROG2-target, is upregulated (p < 0.001). In vitro experiments showed that hsa-miR-34a downregulates NEUROG2 by binding to its 5'-untranslated region. Moreover, we observed strong nuclear expression of NEUROG2 in balloon cells and dysmorphic neurons and found that 28.5% of our patients presented brain somatic mutations in genes of the mTOR pathway.
interpretationOur findings suggest a new molecular mechanism, in which NEUROG2 has a pivotal and central role in the pathogenesis of FCD type II. In this way, we found that the downregulation of hsa-miR-34a leads to upregulation of NEUROG2, and consequently to overexpression of the RND2 gene. These findings indicate that a faulty coupling in neuronal differentiation and migration mechanisms may explain the presence of aberrant cells and complete dyslamination in FCD type II. Ann Neurol 2018;83:623-635.
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