Inherited Metabolic Epilepsies

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Sample Chapter: Chapter 1

Inherited Metabolic Epilepsies

SKU# 9780826168634

Author: Phillip L. Pearl MD

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Description

Praise for the First Edition:

"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 adults

Product Details

  • Publication Date December 30, 2017
  • Page Count 500
  • Product Form Hardback
  • ISBN 13 9780826168634
  • EISBN

Table of Contents

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