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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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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