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Inherited Metabolic Epilepsies PDF

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Inherited Metabolic Epilepsies PDF
Author Phillip L. Pearl MD
File size 62.14 MB
Year 2017
Pages 500
Language English
File format PDF
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Book Description

“This book fills an important and unique niche in pediatric neurology and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable and provides essential and up-to-date clinical data on these individually rare but collectively more common disorders.”

-Elaine Wirrell MD Neurology

“Specialists in pediatric neurology epilepsy and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach as knowledge about metabolic epilepsies continues to grow.”

-Carl E. Stafstrom MD PhD Journal of Pediatric Epilepsy

The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science recognition and treatment of the inherited metabolic epilepsies and related disorders.

Inherited Metabolic Epilepsies Second Edition contains 15 new chapters and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science ―covering energetics metabolomics pathways the use of novel investigations like transcranial magnetic stimulation neuropathology and genomic technologies―supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications pyridoxal-5-phosphate dependency Menkes disease and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families.


  • Synthesizes cutting-edge diagnostic clinical and scientific information on epilepsy and inborn errors of metabolism
  • Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters
  • Authored and edited by international experts in neurology metabolic disorders and genetics
  • A readable and well-illustrated reference for clinicians
  • Essential coverage of the new generation of genetic tests which were not widely available or utilized when the first edition was published
  • New chapter on inherited metabolic epilepsies in adult
  • Inherited Metabolic Epilepsies PDF Inherited Metabolic Epilepsies PDF Free Download Inherited Metabolic Epilepsies PDF Ebook