Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes

Tuberous sclerosis is the prototype of a category of malformations uniquely characterized by disturbances in cellular differentiation and growth. It presents with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism. It is important not only because it is a relatively common hereditary neurological disease with high morbidity, but because it has implications in other pathological processes, such as dysplasia and neoplasia, hamartoma formation and other disturbances in morphogenic processes. This book correlates genetic data and basic science, covers clinical presentation, reviews the historical background and diagnostic criteria, and presents an overview of neuropathology, molecular genetics and neurobiology in order to give a better understanding of the pathogenesis of the disease. Paediatricians and child neurologists will find this book uniquely useful.