Tuberous Sclerosis Complex. From Basic Science to Clinical Phenotypes. International Child Neurology Association

  • ID: 2224219
  • Book
  • Region: Global
  • 328 Pages
  • John Wiley and Sons Ltd
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"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.

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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
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Paolo Curatolo
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