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Author Pearl, Phillip L.

Title Inherited metabolic epilepsies / Phillip L. Pearl.

Imprint New York : Demos Medical Pub., 2013.


Location Call No. OPAC Message Status
 Axe EBSCO Clinical Nursing E-Book  Electronic Book    ---  Available
Description 1 online resource (xiv, 356 pages) : illustrations (some color)
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
Bibliography Includes bibliographical references and index.
Contents Cover; Title; Copyright; Dedication; Contents; Contributors; Preface; Acknowledgments; PART I. GENERAL PRINCIPLES; 1. Inherited Metabolic Epilepsies: The Top 10 Diagnoses You Cannot Afford to Miss; 2. Neuroimaging in the Metabolic Epilepsies; 3. Advances in MR Spectroscopy for Inherited Epilepsies; 4. Electroencephalography in the Metabolic Epilepsies; 5. Genetic Counseling in Metabolic Epilepsies; 6. Ketogenic Diet in Metabolic Epilepsies; PART II. SMALL MOLECULE DISEASES; 7. Amino and Organic Acid Disorders and Epilepsy; 8. Fatty Acid Oxidation Disorders and Epilepsy
9. Urea Cycle Disorders and Epilepsy10. Mitochondrial Diseases and Epilepsy; 11. Pyridoxine-Dependent Epilepsy and Related Conditions; 12. Tetrahydrobiopterin Deficiencies and Epilepsy; 13. Disorders of GABA Metabolism and Epilepsy; 14. Glucose Transporter Type I Deficiency Syndrome and Epilepsy; 15. DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, a Potassium Channelopathy; 16. Hyperammonemia/Hyperinsulinism and Epilepsy; 17. Glycine Encephalopathy and Epilepsy; 18. Serine Synthesis Defects and Epilepsy; 19. Lesch-Nyhan Disease and Epilepsy
20. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy21. Creatine Disorders and Epilepsy; 22. Cerebral Folate Deficiency and Epilepsy; 23. Homocysteinemias and Epilepsy; PART III. LARGE MOLECULE DISEASES; 24. Congenital Disorders of Glycosylation and Epilepsy; 25. Lysosomal Storage Diseases and Epilepsy; 26. Peroxisomal Diseases and Epilepsy; 27. Leukodystrophies and Epilepsy; PART IV. CONCLUSIONS; 28. Clinical Approach to Inherited Metabolic Epilepsies; Index
Summary 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.
Language English.
Subject Epilepsy -- Genetic aspects.
Metabolism, Inborn errors of.
PSYCHOLOGY -- Neuropsychology.
Epilepsy. (OCoLC)fst00914183
Epilepsy -- Genetic aspects. (OCoLC)fst00914191
Metabolism, Inborn errors of. (OCoLC)fst01017496
Brain Diseases, Metabolic, Inborn -- complications.
Epilepsy -- etiology.
Brain Diseases, Metabolic, Inborn -- diagnosis.
Brain Diseases, Metabolic, Inborn -- therapy.
Epilepsy -- diagnosis.
Epilepsy -- therapy.
Genre/Form Electronic books.
Electronic books.
Other Form: Print version: Pearl, Phillip L. Inherited metabolic epilepsies. New York : Demos Medical Pub., 2013 (DLC) 2012023320
ISBN 1617050563 (electronic bk.)
9781617050565 (electronic bk.)
Standard No. DEBBG BV043067133
DEBSZ 429943415

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