Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy

Tuberous sclerosis complex (TSC) is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR) signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhib...

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Main Author:	James W. Wheless
Format:	Article
Language:	English
Published:	Elsevier 2015-01-01
Series:	Epilepsy and Behavior Case Reports
Subjects:	Tuberous sclerosis complex Epilepsy Seizures Everolimus Pediatric Mechanistic target of rapamycin inhibitor
Online Access:	http://www.sciencedirect.com/science/article/pii/S2213323215000274

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spelling	doaj-1839d2e2888148e4b5ea4341c2b6319a2020-11-24T21:42:05ZengElsevierEpilepsy and Behavior Case Reports2213-32322015-01-014C636610.1016/j.ebcr.2015.06.008Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsyJames W. WhelessTuberous sclerosis complex (TSC) is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR) signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhibitor everolimus has been used in the treatment of subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. This article describes the case of a 13-year-old girl with TSC-associated epilepsy with refractory generalized seizures who initiated treatment with everolimus and experienced subsequent improvement in several TSC manifestations, including a reduction in seizure frequency from clusters of two or three daily to one every 2 to 4 weeks after 1.5 years of treatment.http://www.sciencedirect.com/science/article/pii/S2213323215000274Tuberous sclerosis complexEpilepsySeizuresEverolimusPediatricMechanistic target of rapamycin inhibitor
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	James W. Wheless
spellingShingle	James W. Wheless Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy Epilepsy and Behavior Case Reports Tuberous sclerosis complex Epilepsy Seizures Everolimus Pediatric Mechanistic target of rapamycin inhibitor
author_facet	James W. Wheless
author_sort	James W. Wheless
title	Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
title_short	Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
title_full	Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
title_fullStr	Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
title_full_unstemmed	Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
title_sort	use of the mtor inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
publisher	Elsevier
series	Epilepsy and Behavior Case Reports
issn	2213-3232
publishDate	2015-01-01
description	Tuberous sclerosis complex (TSC) is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR) signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhibitor everolimus has been used in the treatment of subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. This article describes the case of a 13-year-old girl with TSC-associated epilepsy with refractory generalized seizures who initiated treatment with everolimus and experienced subsequent improvement in several TSC manifestations, including a reduction in seizure frequency from clusters of two or three daily to one every 2 to 4 weeks after 1.5 years of treatment.
topic	Tuberous sclerosis complex Epilepsy Seizures Everolimus Pediatric Mechanistic target of rapamycin inhibitor
url	http://www.sciencedirect.com/science/article/pii/S2213323215000274
work_keys_str_mv	AT jameswwheless useofthemtorinhibitoreverolimusinapatientwithmultiplemanifestationsoftuberoussclerosiscomplexincludingepilepsy
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Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy

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