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Inherited Metabolic Epilepsies, 1E (2013) [PDF][UnitedVRG]

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Description

 							
  Inherited Metabolic Epilepsies,
1E
  
  by Phillip L. Pearl MD (Author) 
 

  True PDF, Bookmarked and Indexed
  
  
  
  ISBN-13: 978-1936287253 | ISBN-10: 1936287250 | Edition: 1 st | October 4, 2012
  
  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 						

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