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Inherited metabolic epilepsies

Author: Phillip L Pearl
Publisher: New York : Demos Medical Pub., ©2013.
Edition/Format:   Print book : EnglishView all editions and formats
Database:WorldCat
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  Read more...
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Document Type: Book
All Authors / Contributors: Phillip L Pearl
ISBN: 9781936287253 1936287250 9781617050565 1617050563
OCLC Number: 795553730
Description: xiv, 356 pages : illustrations, maps ; 27 cm
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. Contents note continued: 13. Disorders of GABA Metabolism and Epilepsy / K. Michael Gibson --
14. Glucose Transporter Type I Deficiency Syndrome and Epilepsy / Darryl C. De Vivo --
15. DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, A Potassium Channelopathy / Frances Ashcroft --
16. Hyperammonemia/Hyperinsulinism and Epilepsy / Andrea Kelly --
17. Glycine Encephalopathy and Epilepsy / Julia B. Hennermann --
18. Serine Synthesis Defects and Epilepsy / Tom J. de Koning --
19. Lesch-Nyhan Disease and Epilepsy / Hyder A. Jinnah --
20. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy / 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. McClintock --
pt. III LARGE MOLECULE DISEASES --
24. Congenital Disorders of Glycosylation and Epilepsy / Susan Sparks. Contents note continued: 25. Lysosomal Storage Diseases and Epilepsy / Grisel Lopez --
26. Peroxisomal Diseases and Epilepsy / Gerald V. Raymond --
27. Leukodystrophies and Epilepsy / Adeline Vanderver --
pt. IV CONCLUSIONS --
28. Clinical Approach to Inherited Metabolic Epilepsies / Phillip L. Pearl.
Responsibility: [edited by] Phillip L. Pearl.

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  Read more...

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