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Journal of Child Neurology
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Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment

Paolo Curatolo, MD

Department of Neuroscience Section of Pediatric Neurology, "Tor Vergata" University of Rome, Rome, Italy, curatolo{at}uniroma2.it.

Roberta Bombardieri, MD

Department of Neuroscience Section of Pediatric Neurology, "Tor Vergata" University of Rome, Rome, Italy

Magda Verdecchia, MD

Department of Neuroscience Section of Pediatric Neurology, "Tor Vergata" University of Rome, Rome, Italy

Stefano Seri, MD

Department of Neuroscience Section of Pediatric Neurology, "Tor Vergata" University of Rome, Rome, Italy

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. (J Child Neurol 2005;20:318—325).

Journal of Child Neurology, Vol. 20, No. 4, 318-325 (2005)
DOI: 10.1177/08830738050200040901
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