Intractable seizures in tuberous sclerosis complex: From molecular pathogenesis to the rationale for treatment

Paolo Curatolo*, Roberta Bombardieri, Magda Verdecchia, Stefano Seri

*Corresponding author for this work

Research output: Contribution to journalReview article

Abstract

Tuberous sclerosis complex is a multisystem autosomal dominant genetic disorder resulting from mutations in one of two genes, TSC1 and TSC2. Pathologically, tuberous sclerosis complex is characterized by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. Epilepsy occurs in about 90% of patients, with onset frequently in the first year of life. In a sizable proportion of individuals, seizures tend to be refractory to antiepileptic drug treatment. This article reviews the progress in understanding drug-resistant seizures in tuberous sclerosis complex, from molecular pathogenesis to the pathophysiologic mechanisms of epileptogenesis, and the rationale for appropriate medical and surgical treatment.

Original languageEnglish
Pages (from-to)318-325
Number of pages8
JournalJournal of Child Neurology
Volume20
Issue number4
DOIs
Publication statusPublished - Apr 2005

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