Inherited Metabolic Epilepsies

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Inherited Metabolic Epilepsies

SKU# 9780826168634

Author: Phillip L. Pearl MD

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    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.


    • 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 January 03, 2018
    • Page Count 564
    • Product Form Hardback
    • ISBN 13 9780826168634
    • EISBN

    Table of Contents






    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


    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


    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


    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


    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


    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