Chapter

mTOR and Epileptogenesis in Developmental Brain Malformations

Michael Wong and Peter B. Crino

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI: http://dx.doi.org/10.1093/med/9780199746545.003.0065

Series: Contemporary Neurology Series

mTOR and Epileptogenesis in Developmental Brain Malformations

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Malformations of cortical development (MCDs) are among the most common causes of epilepsy. While a wide variety of types and classifications of MCDs exists,1 a subset of focal cortical malformations (FCMs), including tuberous sclerosis complex (TSC), focal cortical dysplasia, ganglioglioma, and hemimegalencephaly, is associated with an especially high incidence of epilepsy and other neurological deficits, such as cognitive dysfunction and autism.2,3 Epilepsy related to these focal developmental brain malformations is often refractory to medical therapy. Even in patients whose seizures are well controlled with medications, currently available drugs are only symptomatic treatments that help suppress seizures; they have not been demonstrated to have antiepileptogenic or disease-modifying properties in preventing or altering the long-term prognosis of epilepsy. Although epilepsy surgery may eliminate seizures in some medically intractable cases, many patients are not good candidates for surgery or continue to have seizures despite surgical intervention. Thus, novel therapeutic strategies are needed to reduce the burden of seizures and other neurological symptoms caused by MCDs or, ideally, to prevent the development of epilepsy in the first place.

Chapter.  6063 words.  Illustrated.

Subjects: Neurology

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