ArticleItalian journal of pediatrics2018
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Article in Italian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled 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
- [Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1-A Tertiary Center Experience in a Cohort of 118 Children.Diagnostics (Basel, Switzerland) · 2025Article
- Recent advances of epilepsy associated with neurofibromatosis type 1.Frontiers in neurology · 2025Review
- Early-life immune activation is a vulnerability factor for adult epileptogenesis in neurofibromatosis type 1 in male mice.Frontiers in neurology · 2024Article
- Multispectral Imaging Analysis of Skin Lesions in Patients with Neurofibromatosis Type 1.Journal of clinical medicine · 2023Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- Polysomnographic study in pediatric neurofibromatosis type 1.Frontiers in neurology · 2023Article
- Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.Cancers · 2021Article
- Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.American journal of human genetics · 2020Article
- A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.BMC neurology · 2020Article
- Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1.Cancers · 2020Article
- Therapeutic role of targeting mTOR signaling and neuroinflammation in epilepsy.Epilepsy research · 2020Review
- Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years' Experience.Child neurology openArticle
- The profile of epilepsy and its characteristics in children with neurocutaneous syndromes.Journal of neurosciences in rural practiceArticle
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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures.
methodsThe medical records of 437 children (0-18 years old) with NF1 were reviewed. All children with at least one afebrile seizure were included. Demographic, clinical, neurological, NF1 mutation status, and EEG data were collected along with brain magnetic resonance imaging. Depending on etiology, structural seizures have been identified and were further classified as NF1 related or not.
resultsNineteen patients (4.3%; 13 males) were included. NF1 was inherited in 7 (37.5%), with 3 maternal forms. Ten children with structural seizures were identified. Seven forms were identified someway related to NF1, two of which were associated to 17q11.2 microdeletion and hypoxic-ischemic encephalopathy. Any brain lesion that could explain seizures was found in nine patients, two third of these patients had a familiar history of epilepsy.
conclusionsOur results suggest seizures are more frequent in NF1 children (4.3%) than in general pediatric population (0.3-0.5%) and that are someway related to NF1 in half of patients. Facing seizures in NF1, the clinician should first exclude brain tumors but also other, and rarer NF1-related scenarios, such as hydrocephalous and vasculopathies. Children with non-structural seizures frequently had a family history of epilepsy, raising questions about the pathogenic role of NF1. They should be approached as for the general population.
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