Abstracts

Rationale: Tuberous sclerosis complex (TSC) is a frequent cause of symptomatic partial epilepsy. Although 60 to 90% of patients with TSC are reported to have a history of epilepsy, little is known about the natural history of epilepsy in TSC. Methods: A retrospective analysis was performed of all patients with TSC followed at the Herscot Center for Tuberous Sclerosis Complex at the Massachusetts General Hospital from October 1996 to December 2006. Data collected included history of epilepsy, age at seizure onset, history of infantile spasms, seizure types, epilepsy intractability, epilepsy remission rate, and TSC1 and TSC2 DNA mutational analysis. Results: From 237 clinically diagnosed TSC patients, 206 (87%) had a history of epilepsy. Median age at seizure onset was one year (range = 0 to 38.9 y; SD = 4.8 y) and 65% of patients had seizure onset during the first year of life. Ninety-two (39%) had a history of infantile spasms and 136 (66%) had intractable epilepsy. Twelve patients (6%) had a history of definite Lennox-Gastaut syndrome (LGS) (defined by characteristic generalized slow spike and wave pattern on EEG, multiple generalized seizure types, and developmental delay), 53 (26%) had probable LGS (two out of the three above criteria), and 141 did not have LGS. Of the total TSC population, 125 had documented age of seizure onset, age at last seizure and age at last follow-up, including 33 (26%) who had experienced remission of their epilepsy. DNA mutational analysis was available for 138 patients (67%). There was no difference between the incidence of intractable epilepsy or remission of epilepsy between the different genotypes (TSC1, TSC2, no mutation identified). Conclusions: In our TSC population of patients attending a tertiary care center, epilepsy occurred in the majority of patients, typically had onset during the first year of life, became intractable in two thirds of patients, and remitted in approximately 25%.