title: Epilepsy in individuals with neurofibromatosis type 1.
abstract: OBJECTIVE
  To describe the clinical characteristics and outcomes of individuals with neurofibromatosis type 1 (NF1) and seizures in the largest cohort reported to date.
  
  
  METHODS
  A retrospective cross-sectional review of 536 individuals with NF1 was performed, and clinical data from 51 individuals with a history of at least one seizure were analyzed.
  
  
  RESULTS
  In individuals with NF1, 9.5% had a history of at least one unprovoked seizure, and 6.5% had documented epilepsy. Individuals with seizures were more likely to have inherited NF1 from their mother (p = 0.001). Focal seizures were the most common type, occurring in 57% of individuals, although generalized seizures, specific electroclinical syndromes, and the presence of multiple seizure types were also noted. Moreover, in 21% of individuals with a previously unremarkable magnetic resonance imaging (MRI) study, neuroimaging at seizure onset revealed a new structural abnormality. In this population, 77% of individuals required multiple antiepileptic drugs (AEDs), and some required epilepsy surgery, with the best results following temporal lobe glioma resection.
  
  
  CONCLUSIONS
  Compared to the general population, seizures are more common in individuals with NF1, where they are often focal and related to an intracranial neoplasm. These observations suggest that all individuals with NF1 and a new seizure should undergo MRI despite previous normal neuroimaging. Individuals with seizures and NF1 typically require more aggressive therapy than those without NF1 and should be considered for epilepsy surgery when appropriate.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, U.S.A.
authors.forename: Adam P
authors.initials: AP
authors.lastname: Ostendorf
authors.forename: David H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: Judith L Z
authors.initials: JL
authors.lastname: Weisenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D059906:Neuroimaging; D012189:Retrospective Studies; D012640:Seizures / Q000209:etiology; D055815:Young Adult
keywords: Astrocytoma; Brain tumor; Neurocutaneous syndrome; Phakomatosis; Seizures