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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 24 - Tuberous sclerosis complex

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

This chapter first presents the molecular physiology and pathology of tuberous sclerosis complex (TSC), and then discusses diagnostic testing for TSC. In TSC, inadequate suppression of the mTORC1 pathway results in dysgenic lesions and tumor growth in multiple organ systems. Epilepsy is the most common neurological symptom, affecting approximately 85% of TSC patients, and is a significant source of morbidity and mortality. Infantile spasms in TSC frequently develop concurrently with partial epilepsy and poor control of seizures types other than spasms is also correlated with poor outcome. Initial evaluation of a patient with known or suspected TSC should focus on confirmation of the diagnosis by identifying major and minor diagnostic features. Confident diagnosis of TSC in a young child can be difficult, as different organs are preferentially involved at distinct developmental stages. Multicenter clinical trials evaluating rapamycin and other structurally similar chemical analogs are currently underway for use in TSC.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 177 - 182
Publisher: Cambridge University Press
Print publication year: 2011

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