Inherited Metabolic Epilepsies

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 pro [...]
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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. It combines the latest work in a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated. It features contributors who 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.