ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2009
Neurofibromatosis type 1 and infantile spasms.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- 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
- A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.Human genome variation · 2023Article
- Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.Frontiers in pediatrics · 2021Article
- West syndrome: a comprehensive review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Modeling epileptic spasms during infancy: Are we heading for the treatment yet?Pharmacology & therapeutics · 2020Review
- Rapid ictal transition of focal epilepsy to infantile spasms in neurofibromatosis type 1 captured with EEG.Epilepsy & behavior reports · 2020Article
- Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.Nature communications · 2019Article
- Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations inEpilepsia open · 2018Article
- The genetics of the epilepsies.Current neurology and neuroscience reports · 2015Review
- Natural history of neurofibromatosis type 2 with onset before the age of 1 year.Neurogenetics · 2013Review
- Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.Epilepsia · 2012Review
- Therapeutics for childhood neurofibromatosis type 1 and type 2.Current treatment options in neurology · 2011Article
- Genetic and biologic classification of infantile spasms.Pediatric neurology · 2011Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis). MATERIALS AND
methodsThe aim of the present study was to try to establish a genotype-phenotype correlation in IS in the setting of NF1. A retrospective (years 1990-2000) and prospective (years 2000-2006) study in three paediatric centres in Italy were taken as referral populations for: (1) children with NF1 and (2) neurological problems in childhood.
resultsTen NF1 patients have had IS. The calculated population-based: (1) prevalence of IS in NF1 (0.76%) was higher than the reported frequency of IS in the general population (0.02-0.05%) and (2) frequency of NF1 in the IS series in two out of three centres (0.62-0.90%) was lower than the estimated frequencies in the literature (1.5-3.0%). Patients had psychomotor delay preceding the spasms (50%), symmetrical spasms (50%), typical (80%) and modified (20%) hypsarrhythmia and foci of spikes and waves and a good response to corticosteroid treatment (50%). Outcome was good in 30%. Imaging revealed high-signal foci in atypical locations (sub-cortical and central brain regions). Deoxyribonucleic acid analysis revealed three novel NF1 gene mutations without genotype-phenotype correlation.
conclusionEven though the combination of IS and NF1 does not seem to be coincidental, it is certainly an unusual event in NF1--rarer than in other neurocutaneous disorders. Spasms in NF1 are not associated with specific genetic defects.
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