The natural history of epilepsy in tuberous sclerosis complex

Summary 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 r...

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Veröffentlicht in:Epilepsia (Copenhagen) 2010-07, Vol.51 (7), p.1236-1241
Hauptverfasser: Chu‐Shore, Catherine J., Major, Philippe, Camposano, Susana, Muzykewicz, David, Thiele, Elizabeth A.
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Sprache:eng
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Zusammenfassung:Summary 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
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1167.2009.02474.x