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The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
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Chapter 25 - Neurofibromatoses

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited tumor predisposition syndromes that have a major impact on the nervous system but are clinically and genetically distinct disorders. This chapter discusses the clinical characteristics and genetics of the neurofibromatoses and presents the current knowledge about their relationship with epilepsy. As neurofibromin acts as a tumor suppressor, NF1 individuals are at increased risk of developing benign and malignant tumors, particularly pilocytic astrocytomas, although pilomyxoid astrocytomas and glioblastoma multiforme can occur. The treatment of NF1 is based on assiduous monitoring for disease complications and treatment of the specific disease manifestations. NF2 should be distinguished from schwannomatosis, a rare condition characterized by the development of painful schwannomas involving the cutaneous, peripheral, and spinal nerves. The diagnosis of NF2 is made according a combination of skin, eye, and central and peripheral nervous system manifestations.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 183 - 188
Publisher: Cambridge University Press
Print publication year: 2011

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