Matches in SemOpenAlex for { <https://semopenalex.org/work/W2318984967> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2318984967 abstract "Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The NF1 gene is located on chromosome 17q11.2 and codes for a large tumor suppressor protein, called neurofibromin. The prevalence is around 1 in 3,000 individuals, and it is inherited dominantly with a 98% penetrance, but with high phenotypic variability. Neurologic manifestations are mainly tumors, such as optic gliomas, focal areas of high T2-weighted magnetic resonance imaging signals known as unidentified bright objects, mental retardation or learning disabilities, and epilepsy. Other neurologic problems, including attention deficits and headaches, have been described. The prevalence of seizures in patients with NF1 is around 3.8 to 6%. This is considerably higher than the 1 to 2% reported for the general population, or the 4% of children who have experienced a seizure. The majority of classifiable seizures are focal in origin with or without secondary generalization. Most abnormal electroencephalography recordings reveal focal abnormalities. Overall, more than half of the electroencephalography studies are abnormal. The most frequent structural lesions found in patients with NF1 and epilepsy are tumors and malformations of cortical development. Other types of epilepsies and epileptic syndromes have also been described to be associated with NF1, such as West syndrome, Lennox-Gastaut syndrome, myoclonic epilepsy, epilepsy with generalized tonic-clonic seizures, childhood absence epilepsy, and juvenile myoclonic epilepsy. In patients with focal epilepsy, neuroimaging should be performed to exclude neoplastic and other types of focal lesions. In patients with NF1 and seizures, optimal management of antiepileptic drugs and eventually surgery should be considered." @default.
- W2318984967 created "2016-06-24" @default.
- W2318984967 creator A5042298802 @default.
- W2318984967 creator A5064513280 @default.
- W2318984967 creator A5086125873 @default.
- W2318984967 date "2015-12-02" @default.
- W2318984967 modified "2023-09-27" @default.
- W2318984967 title "Neurofibromatosis and Epilepsy" @default.
- W2318984967 doi "https://doi.org/10.1055/s-0035-1570020" @default.
- W2318984967 hasPublicationYear "2015" @default.
- W2318984967 type Work @default.
- W2318984967 sameAs 2318984967 @default.
- W2318984967 citedByCount "2" @default.
- W2318984967 countsByYear W23189849672017 @default.
- W2318984967 countsByYear W23189849672021 @default.
- W2318984967 crossrefType "journal-article" @default.
- W2318984967 hasAuthorship W2318984967A5042298802 @default.
- W2318984967 hasAuthorship W2318984967A5064513280 @default.
- W2318984967 hasAuthorship W2318984967A5086125873 @default.
- W2318984967 hasConcept C104317684 @default.
- W2318984967 hasConcept C118552586 @default.
- W2318984967 hasConcept C126838900 @default.
- W2318984967 hasConcept C127716648 @default.
- W2318984967 hasConcept C142724271 @default.
- W2318984967 hasConcept C143409427 @default.
- W2318984967 hasConcept C15744967 @default.
- W2318984967 hasConcept C169760540 @default.
- W2318984967 hasConcept C170932241 @default.
- W2318984967 hasConcept C187212893 @default.
- W2318984967 hasConcept C200544954 @default.
- W2318984967 hasConcept C2778186239 @default.
- W2318984967 hasConcept C2778734009 @default.
- W2318984967 hasConcept C2778984943 @default.
- W2318984967 hasConcept C2779814861 @default.
- W2318984967 hasConcept C2780803581 @default.
- W2318984967 hasConcept C2780874087 @default.
- W2318984967 hasConcept C2908647359 @default.
- W2318984967 hasConcept C2910479173 @default.
- W2318984967 hasConcept C522805319 @default.
- W2318984967 hasConcept C54355233 @default.
- W2318984967 hasConcept C58693492 @default.
- W2318984967 hasConcept C71924100 @default.
- W2318984967 hasConcept C86803240 @default.
- W2318984967 hasConcept C99454951 @default.
- W2318984967 hasConceptScore W2318984967C104317684 @default.
- W2318984967 hasConceptScore W2318984967C118552586 @default.
- W2318984967 hasConceptScore W2318984967C126838900 @default.
- W2318984967 hasConceptScore W2318984967C127716648 @default.
- W2318984967 hasConceptScore W2318984967C142724271 @default.
- W2318984967 hasConceptScore W2318984967C143409427 @default.
- W2318984967 hasConceptScore W2318984967C15744967 @default.
- W2318984967 hasConceptScore W2318984967C169760540 @default.
- W2318984967 hasConceptScore W2318984967C170932241 @default.
- W2318984967 hasConceptScore W2318984967C187212893 @default.
- W2318984967 hasConceptScore W2318984967C200544954 @default.
- W2318984967 hasConceptScore W2318984967C2778186239 @default.
- W2318984967 hasConceptScore W2318984967C2778734009 @default.
- W2318984967 hasConceptScore W2318984967C2778984943 @default.
- W2318984967 hasConceptScore W2318984967C2779814861 @default.
- W2318984967 hasConceptScore W2318984967C2780803581 @default.
- W2318984967 hasConceptScore W2318984967C2780874087 @default.
- W2318984967 hasConceptScore W2318984967C2908647359 @default.
- W2318984967 hasConceptScore W2318984967C2910479173 @default.
- W2318984967 hasConceptScore W2318984967C522805319 @default.
- W2318984967 hasConceptScore W2318984967C54355233 @default.
- W2318984967 hasConceptScore W2318984967C58693492 @default.
- W2318984967 hasConceptScore W2318984967C71924100 @default.
- W2318984967 hasConceptScore W2318984967C86803240 @default.
- W2318984967 hasConceptScore W2318984967C99454951 @default.
- W2318984967 hasLocation W23189849671 @default.
- W2318984967 hasOpenAccess W2318984967 @default.
- W2318984967 hasPrimaryLocation W23189849671 @default.
- W2318984967 hasRelatedWork W1811338626 @default.
- W2318984967 hasRelatedWork W1972378069 @default.
- W2318984967 hasRelatedWork W1996021176 @default.
- W2318984967 hasRelatedWork W2017871797 @default.
- W2318984967 hasRelatedWork W2050468409 @default.
- W2318984967 hasRelatedWork W2071343975 @default.
- W2318984967 hasRelatedWork W2110447766 @default.
- W2318984967 hasRelatedWork W2127031585 @default.
- W2318984967 hasRelatedWork W2339409370 @default.
- W2318984967 hasRelatedWork W2460155043 @default.
- W2318984967 hasRelatedWork W2484299728 @default.
- W2318984967 hasRelatedWork W2799491236 @default.
- W2318984967 hasRelatedWork W2894053476 @default.
- W2318984967 hasRelatedWork W2901167350 @default.
- W2318984967 hasRelatedWork W2918700847 @default.
- W2318984967 hasRelatedWork W2982575716 @default.
- W2318984967 hasRelatedWork W3039029743 @default.
- W2318984967 hasRelatedWork W310087541 @default.
- W2318984967 hasRelatedWork W1782586787 @default.
- W2318984967 hasRelatedWork W2486644140 @default.
- W2318984967 isParatext "false" @default.
- W2318984967 isRetracted "false" @default.
- W2318984967 magId "2318984967" @default.
- W2318984967 workType "article" @default.