title: Cortical tubers, cognition, and epilepsy in tuberous sclerosis.
abstract: Tuberous sclerosis complex is an autosomal-dominant genetic disorder characterized by hamartomatous growth in various organs. Patients who have this disorder exhibit a high rate of epilepsy and cognitive problems. We investigated number of tubers, location, seizure types, and cognitive outcome, and we analyzed the relationships among them in our tuberous sclerosis patients in the Comprehensive Epilepsy Program at the University of Alberta. We also examined the seizure outcome after tuber resection. Our study cohort included 24 patients with tuberous sclerosis complex. We obtained seizure history, electroencephalogram, and neuropsychologic parameters. Magnetic resonance imaging was used to examine tuber numbers and locations. Ten patients underwent surgical removal of tubers responsible for intractable epilepsy. A negative correlation was found between the number of tubers and intelligent quotient score. Epilepsy surgery led to freedom from seizures in this patient group. We demonstrated that the total number and location of cortical tubers play a significant role in the extent of mental retardation in patients with tuberous sclerosis complex. In addition, patients with intractable seizures and well-defined epileptic focus had excellent surgical outcome.
authors.affiliation: Comprehensive Epilepsy Program, University of Alberta Hospital, Edmonton, Alberta, Canada.
authors.forename: Janani
authors.initials: J
authors.lastname: Kassiri
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Snyder
authors.forename: Ravi
authors.initials: R
authors.lastname: Bhargava
authors.forename: B Matt
authors.initials: BM
authors.lastname: Wheatley
authors.forename: D Barry
authors.initials: DB
authors.lastname: Sinclair
mesh_terms: D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology*; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D012189:Retrospective Studies; D013223:Statistics as Topic; D014402:Tuberous Sclerosis / Q000150:complications*