Inherited Metabolic Epilepsies (Original PDF from Publisher)

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Phillip L. Pearl MD (Editor)

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 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. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders 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 while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.

Inherited Metabolic Epilepsies Features:

• Combines the latest work in a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated
• Contributors are recognized authorities
• Opening chapter on “Top Ten Diagnoses You Can’t Afford to Miss” serves as a clinical roadmap for evaluating patients with suspected metabolic epilepsies

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