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Inherited Metabolic Epilepsies, 1ed

“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

About the Author

Contents

۱. Inherited Metabolic Epilepsies: The Top 10 Diagnoses You Cannot Afford to Miss
۲. Neuroimaging in the Metabolic Epilepsies
۳. Advances in MR Spectroscopy for Inherited Epilepsies
۴. Electroencephalography in the Metabolic Epilepsies
۵. Genetic Counseling in Metabolic Epilepsies
۶. Ketogenic Diet in Metabolic Epilepsies
۷. Amino and Organic Acid Disorders and Epilepsy
۸. Fatty Acid Oxidation Disorders and Epilepsy
۹. Urea Cycle Disorders and Epilepsy
۱۰. Mitochondrial Diseases and Epilepsy
۱۱. Pyridoxine-Dependent Epilepsy and Related Conditions
۱۲. Tetrahydrobiopterin Deficiencies and Epilepsy
۱۳. Disorders of GABA Metabolism and Epilepsy
۱۴. Glucose Transporter TypeIDeficiency Syndrome and Epilepsy
۱۵. DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, a Potassium Channelopathy
۱۶. Hyperammonemia/Hyperinsulinism and Epilepsy
۱۷. Glycine Encephalopathy and Epilepsy
۱۸. Serine Synthesis Defects and Epilepsy
۱۹. Lesch-Nyhan Disease and Epilepsy
۲۰. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy
۲۱. Creatine Disorders and Epilepsy
۲۲. Cerebral Folate Deficiency and Epilepsy
۲۳. Homocysteinemias and Epilepsy
۲۴. Congenital Disorders of Glycosylation and Epilepsy
۲۵. Lysosomal Storage Diseases and Epilepsy
۲۶. Peroxisomal Diseases and Epilepsy
۲۷. Leukodystrophies and Epilepsy
۲۸. Clinical Approach to Inherited Metabolic Epilepsies