Phillip L. Pearl

Inherited Metabolic Epilepsies (eBook, ePUB)

• Format: ePub

Produktbeschreibung

"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders."

-Elaine Wirrell, MD, Neurology

"Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow."

-Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy

The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.

Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science -covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies-supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families.

Features

Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism

Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters

Authored and edited by international experts in neurology, metabolic disorders, and genetics

A readable and well-illustrated reference for clinicians

Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published

New chapter on inherited metabolic epilepsies in adult

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Produktdetails

• Verlag: Springer Publishing Company
• Seitenzahl: 564
• Erscheinungstermin: 20. Dezember 2017
• Englisch
• ISBN-13: 9780826168641
• Artikelnr.: 50591184

Autorenporträt

Philip L. Pearl, MD, is Chief of the Division of Neurology at Children's National Medical Center and Professor of Neurology, Pediatrics, and Music at The George Washington University School of Medicine and Columbian College of Arts and Sciences, Washington, DC

Inhaltsangabe

Contents
Contributors
Preface
Acknowledgments
PART I. GENERAL PRINCIPLES
1. Recognition, Scope, and Implications of Inherited Metabolic Epilepsies
Phillip L. Pearl
2. Overview of Inherited Metabolic Disease
Lance H. Rodan and Gerard T. Berry
3. Treatable Inherited Metabolic Epilepsies: Diagnoses Not to Miss
Phillip L. Pearl and Mohammed Almuqbil
PART II. BASIC SCIENCE IN METABOLIC EPILEPSIES
4. Metabolic Epilepsies: Principles and Mechanisms
Carl E. Stafstrom and Jong M. Rho
5. Metabolic Energetics in Epilepsy
Ashwini Sri Hari and Manisha Patel
6. Pathways: Dysregulation of mTOR and Epilepsy
Darius Ebrahimi-Fakhari, Jonathan Lipton, and Mustafa Sahin
7. Protein Anchoring as an Important Mechanism in Early Onset Epilepsy:
Glycosylphosphatidylinositol (GPI) Deficiency Syndromes
Gali Heimer, Bruria Ben-Zeev, and Yair Anikster
PART III. CLINICAL SCIENCE IN METABOLIC EPILEPSIES
8. Neuroimaging in the Metabolic Epilepsies
Robert A. Zimmerman and Zarir P. Khademian
9. Advances in MR Spectroscopy for Inherited Epilepsies
Andrew Breeden, Morgan J. Prust, Stanley T. Fricke, Matthew Whitehead, and
Andrea L. Gropman
10. Neuropathology of Metabolic Epilepsies: Novel Aspects in Children and
the Diagnostic Role of Skin Biopsy
Harvey B. Sarnat
11. Electroencephalography in the Metabolic Epilepsies
Samata Singhi, Mona Alduligan, and Phillip L. Pearl
12. Genomic Technologies in Clinical Practice
Christina Y. Hung and Olaf A. Bodamer
13. Measures of Cortical Excitability by Transcranial Magnetic Stimulation
Alexander Rotenberg
14. Ketogenic Diet in Metabolic Epilepsies
Susan L. Fong and Eric H. Kossoff
PART IV. SMALL MOLECULE DISEASES
15. Amino and Organic Acid Disorders and Epilepsy
Kimberly A. Chapman and Jamie L. Fraser
16. Fatty Acid Oxidation Disorders and Epilepsy
Dimitar Gavrilov and Dietrich Matern
17. Urea Cycle Disorders and Epilepsy
Debra S. Regier, Brendan Lanpher, and Marshall L. Summar
18. Mitochondrial Diseases and Epilepsy
Sumit Parikh, Lynne A. Wolfe, and Andrea L. Gropman
19. Pyridoxine-Dependent Epilepsy
Sidney M. Gospe, Jr.
20. Pyridoxamine 5¿-Phosphate Oxidase (PNPO) Deficiency
Barbara Plecko-Startinig
21. Tetrahydrobiopterin Deficiencies and Epilepsy
Nenad Blau and Thomas Opladen
22. Disorders of GABA Metabolism and Epilepsy
Phillip L. Pearl, Kara Vogel, and K. Michael Gibson
23. Glucose Transporter Type 1 Deficiency Syndrome
Cigdem I. Akman and Darryl C. De Vivo
24. Thiamine Transporter Deficiency and Epilepsy
Brahim Tabarki
25. DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, a
Potassium Channelopathy
Carolina Lahmann and Frances Ashcroft
26. Hyperammonemia/Hyperinsulinism Syndrome and Epilepsy
Nicholas S. Abend and Andrea Kelly
27. Glycine Encephalopathy and Epilepsy
Julia B. Hennermann, Johan L. K. Van Hove, and Curtis R. Coughlin II
28. Serine Synthesis Disorders and Epilepsy
T. J. de Koning
29. Lesch-Nyhan Disease and Epilepsy
Beth A. Leeman-Markowski and Hyder A. Jinnah
30. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy
Jörn Oliver Sass and Barbara Plecko-Startinig
31. Creatine Disorders and Epilepsy
Ton de Grauw
32. Cerebral Folate Deficiency and Epilepsy
Robert Steinfeld
33. Menkes' Disease and Infantile Epilepsy
Asuri N. Prasad
PART V. LARGE MOLECULE DISEASES
34. Congenital Disorders of Glycosylation and Epilepsy
Susan E. Sparks
35. Lysosomal Storage Diseases and Epilepsy
Pranoot Tanpaiboon and Grisel Lopez
36. Peroxisomal Diseases and Epilepsy
Parastoo Jangouk, Kristin W. Barañano, and Gerald V. Raymond
37. Leukodystrophies and Epilepsy
Davide Tonduti and Adeline Vanderver
PART VI. CONCLUSIONS
38. Diagnostic Approaches to Genetic Epilepsies
Erika Takle Axeen, Christelle El Achkar, and Annapurna Poduri
39. Therapeutic Approaches to Inherited Metabolic Epilepsies
Brandy Verhalen and Berge A. Minassian
40. Inherited Metabolic Epilepsies in Adults
Phillip L. Pearl
41. Genetic Counseling in Metabolic Epilepsies
Jodie M. Vento
42. Support and Resources for Patients and Families With Inherited
Metabolic Epilepsies
Christopher Ryan and Jennifer Jeffs
43. Clinical Approach to Inherited Metabolic Epilepsies
Scott Demarest, Anna Lecticia Pinto, and Phillip L. Pearl
Index