Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes

"This is clearly the most authoritative and contemporary statement of current knowledge yet published." from the Foreword by H. Sarnat 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 new genetic data and basic science, covers clinical presentation, reviews the historical background and current diagnostic criteria, and deals with the recent advances in neuropathology, molecular genetics and neurobiology which give a better understanding of the pathogenesis of the disease. Paediatricians and child neurologists will find this book uniquely useful.