ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2019
mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 1 of them a synthesis that pooled it.
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Who cites it
84 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Annals of clinical and translational neurology · 2020Trial
- Inhibition of tRNA fragments dysregulated in human mTLE exacerbates pathology and seizure activity.Acta neuropathologica · 2026Article
- Drug resistant epilepsy driven byEpilepsy & behavior reports · 2026Article
- Mechanistic Target of Rapamycin and Megalencephaly: Novel Research Strategies for Therapeutic Discovery.Epilepsy currents · 2026Article
- The potential role of COX-2/PGs signaling pathway in epileptogenesis and associated neuroinflammation: collusions or serendipity.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation.Scientific reports · 2026Article
- Seizure occurrence in FCD type II is predicted by lesion position and linked to cytoarchitectural alterations.Acta neuropathologica communications · 2025Article
- Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy.JCI insight · 2025Article
- A CRISPR activation screen reveals a cilia disassembly pathway mutated in focal cortical dysplasia.Science advances · 2025Article
- Ablation of dysmorphic neurons is a safe and effective treatment for focal cortical dysplasia II.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Article
- Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- 4E-BP1-dependent translation in microglia controls mechanical hypersensitivity in male and female mice.The Journal of clinical investigation · 2025Article
- Dysregulation of Myelination in Focal Cortical Dysplasia Type II of the Human Frontal Lobe.Glia · 2025Article
- Somatic mosaicism and interneuron involvement in mTORopathies.Trends in neurosciences · 2025Review
- Review
- Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications.Journal of clinical medicine · 2025Review
- Altered cortical excitability in tuberous sclerosis and the effect of mTOR inhibitors: An intracranial electrical stimulation study.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2025Article
- Article
24 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
Abstract
Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malformations of cortical development (FMCDs) that are highly associated with intractable epilepsy. TSC and FCD are mTORopathies caused by a spectrum of pathogenic variants in the mechanistic target of rapamycin (mTOR) pathway genes leading to differential activation of mTOR signaling. However, whether the degree of mTOR hyperactivity influences disease severity remains unclear. Here, we examined the effects of differential mTOR hyperactivity levels on epilepsy and associated neuropathology in a mouse model of TSC and FCD. Constitutively active Rheb (Rheb
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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.