Tabella dei contenuti
Forward: Inherited Metabolic Epilepsies: Diagnostic Challenges, Treatable Entities, and New Frontiers,
Phillip L. Pearl;
I. General Principles : 1. Treatable Metabolic Epilepsies: The Top Ten Diagnoses You Canít Afford to Miss,
Phillip L. Pearl; 2. Neuroimaging in the Metabolic Epilepsies,
Zarir P. Khademian and
Robert Zimmerman; 3. Advances in MR Spectroscopy for Inherited Epilepsies,
Andrea Gropman,
Andrew Breeden, and
Morgan Prust; 4. Electroencephalography in the Metabolic Epilepsies,
Mona Al-Dulaligan and
Phillip L. Pearl; 5. Genetic Counseling in the Metabolic Epilepsies,
Jodie Martin; 6. Ketogenic Diet in Metabolic Epilepsies,
Eric H. W. Kossoff;
II. Small Molecule Diseases : 7. Amino and Organic Acid Disorders and Epilepsy,
Kimberly Chapman; 8. Fatty Acid Oxidation Disorders and Epilepsy,
Dieter Matern and
Dimitar Gavrilov; 9. Urea Cycle Disorders and Epilepsy,
Marshall Summar,
Brendan Lanpher, and
Debra Regier; 10. Mitochondrial Diseases and Epilepsy,
Andrea Gropman,
Sumit Parikh, and
Lynn Wolfe; 11. Vitamin B6 Responsive Seizures in All Its Forms: Pyridoxine, Pyridoxal-5-Phosphate, and Folinic Acid Dependency,
Sidney M. Gospe, Jr.;12. Tetrahydrobiopterin Deficiencies and Epilepsy,
Nenad Blau and
Thomas Opladen; 13. Disorders of GABA Metabolism and Epilepsy,
Phillip L. Pearl,
K. Michael Gibson, and
Cornelius Jakobs; 14. Glucose Transporter Type 1 Deficiency Syndrome, From Inception to Future Directions,
Darryl C. De Vivo and
Amanda Pong; 15. Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND), A Potassium Channelopathy Leading to Epilepsy,
Frances Ashcroft and
Carolina Lahmann; 16. Hyperinsulinsm/Hyperammonemia (HI/HA) and Epilepsy,
Andrea Kelly and
Nicholas S. Abend; 17. Glycine Encephalopathy and Epilepsy,
Julia B. Hennermann; 18. Serine Synthesis Defects and Epilepsy,
T. De Koning; 19. Lesch-Nyhan Disease and Epilepsy,
Hal Jinnah and
Beth A. Leeman; 20. Sulfite Oxidase/Mb Cofactor Deficiency and Epilepsy,
Joern Sass and
Barbara Plecko-Startinig; 21. Creatine Disorders and Epilepsy,
Ton De Grauw; 22. Cerebral Folate Deficiency and Epilepsy,
Fernando Scaglia; 23. Homocysteinemias and Epilepsy,
William M. Mc Clintock;
III. Large Molecule Diseases : 24. Congenital Disorders of Glycosylation and Epilepsy,
Susan Sparks; 25. Lysosomal Storage Diseases and Epilepsy,
Pranoot Tanpaiboon; 26. Peroxisomal Diseases and Epilepsy,
Gerald Raymond,
Parastoo Jangouk, and
Kristin W. Baranano; 27. Leukodystrophies and Epilepsy,
Adeline Vanderver;
IV. Conclusions : 28. Clinical Approach to Inherited Metabolic Epilepsies;
Anna Pinto and
Phillip L. Pearl
