The identification of the cause of an epileptic seizure is a key element in the clinical management of all patients. In recent decades, advances in theory, neuroimaging, molecular genetics and molecular chemistry have revolutionized our ability to investigate and identify the underlying cause. The definitive and unrivalled textbook on the causes of epilepsy, this second edition is extensively revised and expanded. It provides concise descriptions of all the major genetic and acquired conditions that cause epilepsy in adults and children, and the provoking factors for epileptic seizures and of the causes of status epilepticus. A new section considers clinical approaches to diagnosing causes, to guide and assist clinicians in investigations. With 129 chapters written by leading figures from around the world, this comprehensive and authoritative resource is indispensable to senior and junior clinicians and trainees working in the field of epilepsy, including specialists in neurology, paediatrics, neurophysiology, psychiatry and neurosurgery.
List of Contributors; Foreword; Preface; Section I. Introduction: 1. Concept of Causation in Epilepsy Simon D. Shorvon; 2. Epileptogenesis in Idiopathic Epilepsy Snezana Maljevic and Holger Lerche; 3. An Introduction to Epilepsy Genetics Arjune Sen and Michael R. Johnson; 4. Epileptogenesis in Symptomatic Epilepsy Andreas Schulze-Bonhage; 5. Animal Models of Causation of Epilepsy Massimo Mantegazza; Section II. Approaches to the Clinical Investigation and Diagnosis of Cause: 6. Approach to the Diagnosis of Neonatal Seizures Elissa Yozawitz and Ronit Pressler; 7. Approach to the Genetic Diagnosis of Epileptic Encephalopathies and Developmental Encephalopathies with Epilepsy of Early Childhood Renzo Guerrini, Davide Mei, Simon D. Shorvon; 8. Approach to the Diagnosis of Childhood-Onset Epilepsy Associated with Developmental Delay Sarah Aylett; 9. Approach to the Diagnosis of Cortical Developmental Disorders and their Clinical Genetics William Dobyns and Nataliya Di Donato; 10. Approach to the Diagnosis of the Inborn Errors of Metabolism Associated with Epilepsy and their Clinical Genetics Richard E. Frye and Stephen G. Kahler; 11. Approach to the Diagnosis of Epilepsy Presenting with Myoclonus Aidan Neligan, Simon D. Shorvon; 12. Approach to the Diagnosis of Epilepsy Syndromes with Multiple Causes Patrick Van Bogaert; 13. Approach to the Diagnosis of Causation in Epilepsy in Adults Michael R. Sperling; Section III. Idiopathic Epilepsies: 14. Idiopathic Generalized Epilepsies Carla Marini and Renzo Guerrini; 15. Benign Partial Epilepsies of Childhood Roberto H. Carabello and Natalio Fejerman; Section IV. Symptomatic Epilepsies of Genetic or Developmental Origin, a. Single Gene Disorders and Inborn Errors of Metabolism: 16. Benign Familial Neonatal Epilepsy (BFNE) Jelena Radic, Ronit Pressler and J. Helen Cross; 17.Sleep-Related Hypermotor Epilepsy (SHE) Paolo Tinuper and Francesca Bisulli; 18. Genetic Epilepsy with Febrile Seizures Plus (GEFS+) Iris Unterberger and Julia Höfler; 19. Dravet Syndrome and Other SCN1A Disorders Marini Carla and Renzo Guerrini; 20. Familial Lateral Temporal Lobe Epilepsy Roberto Michelucci and Carlo Nobile; 21. Familial Focal Epilepsy with Variable Foci Chantal Depondt; 22. PCDH19 Mutations Related Epilepsy: Phenotype and Genotype Marini Carla and Renzo Guerrini; 23. CDKL5 Encephalopathy Celina von Stülpnagel and Gerhard Kluger; 24. KCNQ2 Encephalopathy Tiziana Pisano and Renzo Guerrini; 25. FoxG1 Encephalopathy Nicola Specchio and Nicola Pietrafusa; 26. STXBP1 Encephalopathy Mitsuhiro Kato; 27. Rett Syndrome Andreea Nissenkorn and Bruria Ben Zeev; 28. Epilepsy and GLUT1 DS Cigdem I. Akman and Darryl C. De Vivo; 29. Other Rare Single-Gene Disorders Causing Epileptic Encephalopathy Rima Nabbout; 30. Mitochondrial Epilepsies Shamima Rahman; 31. Lysosomal Disorders and Epilepsy Mirella Filocamo, Elena Procopio and Amelia Morrone; 32. Peroxisomal Disorders and Epilepsy Hendrik Rosewich and Jutta Gärtner; 33. Menkes' Disease Alberto Verrotti and Chiara Mazzocchetti; 34. Neuroacanthocytosis Anna C. Jansen and Ruth H. Walker; 35. Organic Acid and Amino Acid Metabolism Disorders Elena Procopio, Alice Donati and Renzo Guerrini; 36. Porphyrias Saba Harrach and Joshua Ewen; 37. Pyridoxine-Dependent Epilepsy Sidney M. Gospe Jr.; 38. Fatty Acid Oxidation Disorders Andrea L. Gropman; 39. GABA Syndromes Phillip L. Pearl and K. Michael Gibson; 40. Disorders of Creatine Metabolism and Epilepsy Carmen Fons and Jaume Campistol; 41. Epilepsy Caused by Congenital Disorders of Glycosylation Rita Barone and Agata Fiumara; 42. Urea Cycle Disorders Nicholas Ah Mew, Debra S. Regier and Marshall L. Summar; 43. Hyperinsulinism-hyperammonaemia and Biotin Pathway Defects Isabelle Gourfinkel-An and Vincent Navarro; 44. Other Single Gene Disorders Mario Mastrangelo and Vincenzo Leuzzi; Section IV. Symptomatic Epilepsies, b.