Inherited Metabolic Epilepsies, 2nd Edition

by Phillip L. Pearl MD (Author)

Inherited metabolic epilepsies are a group of disorders that pose a unique challenge to clinicians. These disorders are individually rare but collectively more common, and early recognition and intervention can be crucial for a positive outcome. The second edition of Inherited Metabolic Epilepsies, edited by Phillip L. Pearl, MD, is a highly informative and essential book that bridges the gap between clinical epilepsy and inherited metabolic diseases.

The book is organized in a well-structured and readable manner, with clear and concise language that makes it accessible to a wide range of healthcare professionals, including neurologists, geneticists, and metabolic specialists. It comprises 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this rapidly moving field.

Inherited Metabolic Epilepsies covers a wide range of topics, including basic and clinical science, energetics, metabolomics, pathways, neuropathology, genomic technologies, and novel investigations like transcranial magnetic stimulation. The book also includes dedicated chapters on recently recognized disorders such as pyridoxal-5-phosphate dependency, Menkes’ disease, and thiamine transporter deficiency. These chapters provide a thorough understanding of the diseases and their clinical implications and highlight the latest therapeutic options available.

One of the book’s strengths is its coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published. The book’s authors present the most up-to-date information on these tests, including their clinical applications in the diagnosis of inherited metabolic epilepsies.

The book’s author and editor, Dr. Phillip L. Pearl, is well-known and respected in the field of pediatric neurology and inherited metabolic diseases. His experience and expertise shine through in the book’s well-crafted chapters, ensuring that the content is both accurate and highly informative.

Inherited Metabolic Epilepsies is also visually appealing, with well-designed figures and charts that help illustrate the complex concepts and pathways discussed in the book. A clinical algorithm at the end of the book aids physicians in screening and identifying suspected metabolic disorders, making it a valuable tool for daily practice.

In summary, Inherited Metabolic Epilepsies is an indispensable resource for specialists in pediatric neurology, epilepsy, and biochemical genetics. It is also an excellent reference for trainees who are trying to develop their own clinical approach. The book’s thorough and up-to-date coverage of inherited metabolic epilepsies and related disorders makes it a must-read for anyone involved in the care of children and adults with epilepsy.

For those who are interested in purchasing this book, the digital version has 564 pages, and the dimensions of the product are 8.5 x 1 x 11 inches. The publisher is Demos Medical and the Language of the book is English. The ISBN-10 is 0826168639, and the ISBN-13 is 978-0826168634.

In conclusion, Inherited Metabolic Epilepsies, Second Edition, is a must-read for anyone interested in inherited metabolic epilepsies and related disorders. Its comprehensive coverage, accessibility, and up-to-date information make it an essential reference for healthcare professionals. I would highly recommend this book to anyone involved in the care of patients with epilepsy or inherited metabolic disorders.

Product Details

• 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 adults

• Hardcover: 564 pages
• Publisher: Demos Medical; 2 edition (January 3, 2018)
• Language: English
• ISBN-10: 0826168639
• ISBN-13: 978-0826168634
• Product Dimensions: 8.5 x 1 x 11 inches