Full-Length Original Research
Epilepsy in individuals with neurofibromatosis type 1
Article first published online: 29 AUG 2013
Wiley Periodicals, Inc. © 2013 International League Against Epilepsy
Volume 54, Issue 10, pages 1810–1814, October 2013
How to Cite
Epilepsia, 54(10):1810–1814, 2013
- Issue published online: 1 OCT 2013
- Article first published online: 29 AUG 2013
- Manuscript Accepted: 24 JUL 2013
- Brain tumor;
- Neurocutaneous syndrome
To describe the clinical characteristics and outcomes of individuals with neurofibromatosis type 1 (NF1) and seizures in the largest cohort reported to date.
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.
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.
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.