Inherited Metabolic Epilepsies

Inherited Metabolic Epilepsies

eBook - 2013
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Book News
US contributors in pediatric neurology, clinical biochemistry, molecular imaging, and genetic counseling present the latest research and practice in the field, in this review and reference for physicians and researchers. Part 1, on general principles, begins with a review of the top 10 diagnoses that should not be missed due to serious consequences. Other chapters provide overviews with specific examples of the vital roles of neuroradiology, electroencephalography, and genetic counseling in the evaluation and management of patients with inherited metabolic epilepsies. Part 2 covers small molecule diseases, such as disorders of amino acids, organic acids, neurotransmitters, and mitochondria, while Part 3 reports on work in large molecule diseases, such as defects of glycosylation, lysosomal and peroxisomal function, and leukodystrophies. Of special note is a detailed algorithm for disease screening and choosing specific diagnostic tests, again with emphasis on identifying treatable disorders that can have dire consequences if left untreated. The book contains chapter key points and clinical pearls and is illustrated with b&w medical images. Pearl, chief of the Division of Child Neurology at Children's National Medical Center, teaches medicine at The George Washington University. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com)

Springer Publishing
"The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.

Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.

Inherited Metabolic Epilepsies Key Features:

  • Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated
  • Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders
  • A readable text for clinicians highlighting the relation between metabolic errors and epilepsy
  • Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy
"

Demos Medical Pub
The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text will bring together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Specific screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, and new technologies such as enzyme replacement therapy, stem cells, and gene therapy, will all be discussed. This book has the potential to be a seminal publication in a field that continues to expand rapidly.

"A beautifully written and illustrated volume that brings together international experts to discuss themetabolic seizure diagnoses that 'you cannot afford to miss,' many of them eminently treatable if diagnosed accurately and early... 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. Having consulted this book several times in the past few weeks, I can attest to the book’s special place on my bookshelf, within an arm’s reach!" -- Carl E. Stafstrom, Division of Pediatric Neurology, Johns Hopkins Hospital, Journal of Pediatric Epilepsy

"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." -- Neurology

The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.

Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.

Inherited Metabolic Epilepsies Key Features:

  • Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated
  • Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders
  • A readable text for clinicians highlighting the relation between metabolic errors and epilepsy
  • Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy
"

Publisher: New York : Demos Medical Pub., Ă2013
ISBN: 9781617050565
1617050563
9781936287253
1936287250
Characteristics: 1 online resource (xiv, 356 pages) : illustrations (some color)

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