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Epilepsy in individuals with neurofibromatosis type 1
Author(s) -
Ostendorf Adam P.,
Gutmann David H.,
Weisenberg Judith L. Z.
Publication year - 2013
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12348
Subject(s) - epilepsy , neurofibromatosis , neuroimaging , population , pediatrics , seizure types , medicine , magnetic resonance imaging , epilepsy surgery , temporal lobe , abnormality , family history , epilepsy syndromes , cohort , retrospective cohort study , psychology , psychiatry , pathology , surgery , radiology , environmental health
Summary Purpose To describe the clinical characteristics and outcomes of individuals with neurofibromatosis type 1 ( NF 1) and seizures in the largest cohort reported to date. Methods A retrospective cross‐sectional review of 536 individuals with NF 1 was performed, and clinical data from 51 individuals with a history of at least one seizure were analyzed. Key Findings In individuals with NF 1, 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 NF 1 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 ( AED s), and some required epilepsy surgery, with the best results following temporal lobe glioma resection. Significance Compared to the general population, seizures are more common in individuals with NF 1, where they are often focal and related to an intracranial neoplasm. These observations suggest that all individuals with NF 1 and a new seizure should undergo MRI despite previous normal neuroimaging. Individuals with seizures and NF 1 typically require more aggressive therapy than those without NF 1 and should be considered for epilepsy surgery when appropriate.