Inherited Metabolic Epilepsies

Inherited Metabolic Epilepsies addresses the critical intersection of neurogenetics, metabolism, and epilepsy, providing a comprehensive resource for clinicians facing early-onset and inherited seizure disorders. With over 200 metabolic conditions linked to epilepsy, timely recognition and intervention are essential to prevent severe outcomes. This text brings together leading experts to offer evidence-based guidance on the diagnosis, evaluation, and management of these complex disorders. It covers general principles, including screening protocols, laboratory testing, EEG patterns, imaging, emerging technologies, and dietary therapies like the ketogenic diet, and then delves into treatable small and large molecule disorders. A concluding clinical algorithm serves as a practical decision-making tool for physicians navigating suspected metabolic epilepsies.

Key Features

• Expert Contributions: Chapters written by internationally recognized authorities in metabolic epilepsies and neurogenetics.
• Comprehensive Coverage: Reviews the science, recognition, and treatment of inherited metabolic epilepsies and related disorders.
• Clinical Roadmap: Opening chapter “Top Ten Diagnoses You Can’t Afford to Miss” highlights critical conditions for early recognition.
• Diagnostic Guidance: Detailed protocols for laboratory testing, seizure patterns, EEG findings, imaging, and use of emerging diagnostic technologies.
• Therapeutic Strategies: Covers evidence-based interventions, including the ketogenic diet and disease-specific treatments.
• Cohort-Specific Sections: Focus on small molecule and large molecule treatable disorders that are often challenging for clinicians.
• Practical Tools: Includes a clinical algorithm to aid physicians in identifying metabolic causes of epilepsy in patients.
• State-of-the-Art Reference: Integrates the latest research to support timely, effective, and outcome-driven patient care.