Title: Inherited metabolic epilepsies /
Authors: Pearl, Phillip L.
Publisher: Demos Medical Pub.,
Year: 2013
Subjects: Epilepsy therapy; Epilepsy diagnosis; Brain Diseases, Metabolic, Inborn therapy; Brain Diseases, Metabolic, Inborn diagnosis; Epilepsy etiology; Brain Diseases, Metabolic, Inborn complications; Epilepsy; Epilepsy Genetic aspects; Metabolism, Inborn errors of.
Abstract: 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.
Contents: Machine generated contents note: pt. I GENERAL PRINCIPLES -- 1.Inherited Metabolic Epilepsies: The Top 10 Diagnoses You Cannot Afford to Miss / Phillip L. Pearl -- 2.Neuroimaging in the Metabolic Epilepsies / Zarir P. Khademian -- 3.Advances in MR Spectroscopy for Inherited Epilepsies / Andrea L. Gropman -- 4.Electroencephalography in the Metabolic Epilepsies / Phillip L. Pearl -- 5.Genetic Counseling in Metabolic Epilepsies / Jodie M. Vento -- 6.Ketogenic Diet in Metabolic Epilepsies / Eric H. Kossoff -- pt. II SMALL MOLECULE USEASES -- 7.Amino and Qrganic Acid Disorders and Epilepsy / Kimberly A. Chapman -- 8.Fatty Acid Oxidation Disorders and Epilepsy / Dimitar K. Gavrilov -- 9.Urea Cycle Disorders and Epilepsy / Marshall L. Summar -- 10.Mitochondrial Diseases and Epilepsy / Andrea L. Gropman -- 11.Pyridoxine-Dependent Epilepsy and Related Conditions / Sidney M. Gospe, Jr. -- 12.Tetrahydrobiopterin Deficiencies and Epilepsy / Thomas Opladen --