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 leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.
Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
Inherited Metabolic Epilepsies Key Features:
- Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated
- Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders
- A readable text for clinicians highlighting the relation between metabolic errors and epilepsy
- Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy
Содержание
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
Об авторе
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
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