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The natural history of epilepsy in tuberous sclerosis complex Chu-Shore CJ; Major P; Camposano S; Muzykewicz D; Thiele EAEpilepsia 2010[Jul]; 51 (7): 1236-41BACKGROUND: 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.|Adolescent[MESH]|Adult[MESH]|Child[MESH]|Child, Preschool[MESH]|Epilepsy/*etiology/*physiopathology[MESH]|Follow-Up Studies[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Middle Aged[MESH]|Retrospective Studies[MESH]|Tuberous Sclerosis/*complications/*physiopathology[MESH]|Young Adult[MESH] |
