ReviewFrontiers in neurology2017
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome.
Review in Frontiers in neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin.Human genetics · 2023Pooled it
- Epilepsy in NF1: a systematic review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Pooled it
- Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.Children (Basel, Switzerland) · 2026Review
- Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025Article
- Transcriptome Derived Artificial neural networks predict PRRC2A as a potent biomarker for epilepsy.Journal, genetic engineering & biotechnology · 2025Article
- Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of aFrontiers in neuroscience · 2025Article
- Virus-Induced Epilepsy vs. Epilepsy Patients Acquiring Viral Infection: Unravelling the Complex Relationship for Precision Treatment.International journal of molecular sciences · 2024Review
- Early-life immune activation is a vulnerability factor for adult epileptogenesis in neurofibromatosis type 1 in male mice.Frontiers in neurology · 2024Article
- Potential roles of voltage-gated ion channel disruption in Tuberous Sclerosis Complex.Frontiers in molecular neuroscience · 2024Article
- Predicting Drug Treatment Outcomes in Childrens with Tuberous Sclerosis Complex-Related Epilepsy: A Clinical Radiomics Study.AJNR. American journal of neuroradiology · 2023Article
- Abnormal White Matter Microstructure in the Limbic System Is Associated With Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders.Frontiers in neurology · 2022Article
- Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.Cancers · 2021Article
- Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.Pediatric neurology · 2021Article
- Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications.Cancers · 2021Review
- Sturge-Weber syndrome presenting in late adulthood.BMJ case reports · 2021Article
- Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Medical treatment of tuberous sclerosis-related epilepsy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- An update on the central nervous system manifestations of neurofibromatosis type 1.Acta neuropathologica · 2020Review
- Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex.Paediatric drugs · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders-TSC, neurofibromatosis type 1, and SWS.
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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.