The natural history of epilepsy in tuberous sclerosis complex

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The natural history of epilepsy in tuberous sclerosis complex

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Title: The natural history of epilepsy in tuberous sclerosis complex
Author: Chu, Catherine Jean; Major, Philippe; Camposano, Susana; Muzykewicz, David; Thiele, Elizabeth Anne

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Citation: Chu-Shore, Catherine J., Philippe Major, Susana Camposano, David Muzykewicz, and Elizabeth A. Thiele. 2009. “The Natural History of Epilepsy in Tuberous Sclerosis Complex.” Epilepsia 51 (7) (December 22): 1236–1241. doi:10.1111/j.1528-1167.2009.02474.x.
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Abstract: Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.

Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox-Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.

Results: Two hundred ninety-one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission.

Conclusion: Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.
Published Version: doi:10.1111/j.1528-1167.2009.02474.x
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