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.
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Index Foreword by H. Sarnat Preface Historical background, Paolo Curatolo Diagnostic criteria, Paolo Curatolo Neurological manifestations, Paolo Curatolo and Magda Verdecchia Seizures, Paolo Curatolo and Stefano Seri Intellectual and cognitive impairments, Patrick F. Bolton Autism, Michael Dowling and Paolo Curatolo Neuroimaging, Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo Positron emission tomography, Eishi Asano, Diane C. Chugani and Harry T. Chugani Dermatologic and stomatologic manifestations, Sergiusz Jozwiak and Robert Schwartz Ophthalmologic manifestations, Sergiusz Jozwiak Renal involvement, Sergiusz Jozwiak Cardiac and vascular involvement, Sergiusz Jozwiak Hepatic, lung, splenic and pancreatic involvement, Sergiusz Jozwiak and Paolo Curatolo Molecular genetics, David J. Kwiatkowski, Mary Pat Reeve, Jeremy P. Cheadle and Julian R. Sampson Neuropathology, Masashi Mizuguchi and Okio Hino Molecular neurobiology, Peter B. Crino Future directions, Paolo Curatolo
