Free Ebook Inherited Metabolic Epilepsies
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Book Details :
Published on: 2012-10-04
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Original language: English
"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 " Organization of the Epilepsies - by ILAE Organization of the Epilepsies Request for Comments. The ILAE Commission on Classification and Terminology has prepared a new manuscript on the organization of the ... The Epilepsy Center The Neurology Center of Southern ... American Epilepsy Society Epilepsy Monitoring Unit Facts and Expectations DMV information and forms DMV Application for Disabled Person Placard or Plate Metabolic Disorders Epilepsy Foundation Although all patients with epilepsy have seizures the converse is not necessarily true particularly for patients with seizures from metabolic disturbances. Myoclonus - Wikipedia Myoclonus is a brief involuntary twitching of a muscle or a group of muscles. It describes a medical sign and generally is not a diagnosis of a disease. Progressive Myoclonic Epilepsies Epilepsy Foundation What is it like? Progressive myoclonic epilepsies feature a combination of myoclonic and tonic-clonic seizures. Unsteadiness muscle rigidity and mental ... Epilepsy - Wikipedia Epilepsy is a group of neurological disorders characterized by epileptic seizures. Epileptic seizures are episodes that can vary from brief and nearly undetectable to ... Neurology Articles (Diagnosis Treatment Prognosis ... Neurology articles covering symptoms diagnosis staging treatment prognosis and follow-up. Peer reviewed and up-to-date recommendations written by leading experts. Basic Neurochemistry - (Eighth Edition) - ScienceDirect Basic Neurochemistry Eighth Edition is the updated version of the outstanding and comprehensive classic text on neurochemistry. For more than forty years this text ... Paediatric Neurology RCPCH Paediatric neurology is the branch of medicine which diagnoses and where possible treats babies children and teenagers who have disorders of the brain spinal cord ... Specialty Group Courses RCPCH PET3 concentrates on epilepsies presenting in mid childhood older children and adolescents. It follows the format of PET2 with an emphasis on interactive sessions ...
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