Inherited Metabolic Epilepsies

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Description

“This book fills crucial and unique niche in pediatric neurology, and will be a continuously referenced textbook for all clinicians taking care of 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 an important 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 remedy of the inherited metabolic epilepsies and related disorders.

Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been up to date 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 usage 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 up to date clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families.

Features

  • Synthesizes state of the art diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism
  • Completely up to date 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 have been not widely available or utilized when the first edition was published
  • New chapter on inherited metabolic epilepsies in adult

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