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Tuberous Sclerosis Complex - From Basic Science to Clinical Phenotypes International Review of Child Neurology Series
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More About This Title Tuberous Sclerosis Complex - From Basic Science to Clinical Phenotypes International Review of Child Neurology Series

  • English

English

"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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English

Edited by Paolo Curatolo, Università degli Studi di Roma 'Tor Vergata'
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English

Index.

Foreword by H. Sarnat.

Preface


  2. Historical background, Paolo Curatolo

  4. Diagnostic criteria, Paolo Curatolo

  6. Neurological manifestations, Paolo Curatolo and Magda Verdecchia

  8. Seizures, Paolo Curatolo and Stefano Seri

  10. Intellectual and cognitive impairments, Patrick F. Bolton

  12. Autism, Michael Dowling and Paolo Curatolo

  14. Neuroimaging, Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo

  16. Positron emission tomography, Eishi Asano, Diane C. Chugani and Harry T. Chugani

  18. Dermatologic and stomatologic manifestations, Sergiusz Jozwiak and Robert Schwartz

  20. Ophthalmologic manifestations, Sergiusz Jozwiak

  22. Renal involvement, Sergiusz Jozwiak

  24. Cardiac and vascular involvement, Sergiusz Jozwiak

  26. Hepatic, lung, splenic and pancreatic involvement, Sergiusz Jozwiak and Paolo Curatolo

  28. Molecular genetics, David J. Kwiatkowski, Mary Pat Reeve, Jeremy P. Cheadle and Julian R. Sampson

  30. Neuropathology, Masashi Mizuguchi and Okio Hino

  32. Molecular neurobiology, Peter B. Crino

  34. Future directions, Paolo Curatolo
  • English

English

"The previous giant of tuberous sclerosis was Manuel Gomez of the Mayo Clinic. The present giant is surely Paolo Curatolo. Others will surely stand on his shoulders, some of whom may have their enthusiasm first lit by reading this book. Pediatric neurologists, make sure you have it." Journal of Pediatric Neurology
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