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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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Pearl, Phillip L.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: New York : Demos Medical Pub., ©2013.
Temas:
Epilepsy > Genetic aspects.
Epilepsy.
Metabolism, Inborn errors of.
Brain Diseases, Metabolic, Inborn > complications
Epilepsy > etiology
Brain Diseases, Metabolic, Inborn > diagnosis
Brain Diseases, Metabolic, Inborn > therapy
Epilepsy > diagnosis
Epilepsy > therapy
Metabolism, Inborn Errors
Maladies métaboliques congénitales.
PSYCHOLOGY > Neuropsychology.
Epilepsy
Epilepsy > Genetic aspects
Metabolism, Inborn errors of
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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

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