Phillip L. Pearl – författare

**Selected for 2026 Doody's Core Titles as an Essential Purchase in Neurology**For fifty years, experienced clinicians and physicians in training have relied on Swaiman’s cornerstone text as their #1 source for authoritative guidance in pediatric neurology. Swaiman's Pediatric Neurology: Principles and Practice, Seventh Edition, continues this tradition of excellence under the expert editorial direction of Drs. Stephen Ashwal and Phillip L. Pearl, along with a team of key leaders in the field who serve as associate and section editors in their areas of expertise. Thorough revisions-including new chapters, new videos, new editors, and expanded content-bring you up to date with this dynamic field.

Praise for the First Edition:"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for 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 crucial 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 treatment of the inherited metabolic epilepsies and related disorders.Inherited Metabolic Epilepsies, Second Edition, contains 15 new chapters, and all existing chapters have been updated 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 use 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 updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families.FeaturesSynthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolismCompletely updated and expanded second edition contains the latest knowledge and 15 entirely new chaptersAuthored and edited by international experts in neurology, metabolic disorders, and geneticsA readable and well-illustrated reference for cliniciansEssential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was publishedNew chapter on inherited metabolic epilepsies in adults

This book presents an interdisciplinary survey at the intersection of music, creativity, and medicine. Featuring contributions from medical doctors, psychologists, and musicians, it surveys thought-provoking findings in the music-medical borderlands. Experts in neuroscience explore the cerebral underpinnings of music, from auditory-motor interactions, to rhythm, to the role of music in therapy, epilepsy, and cognitive disorders. Case studies describe medical biographies of musical masters, including Beethoven's deafness, Schumann's deterioration, Ravel's dementia, and Gershwin's brain tumor. There are accompanying studio recordings from the volume editors. Students, researchers, or anyone interested in the new frontiers of music in medicine will find original cross-disciplinary connections in this volume.

This book presents an interdisciplinary survey at the intersection of music, creativity, and medicine. Featuring contributions from medical doctors, psychologists, and musicians, it surveys thought-provoking findings in the music-medical borderlands. Experts in neuroscience explore the cerebral underpinnings of music, from auditory-motor interactions, to rhythm, to the role of music in therapy, epilepsy, and cognitive disorders. Case studies describe medical biographies of musical masters, including Beethoven's deafness, Schumann's deterioration, Ravel's dementia, and Gershwin's brain tumor. There are accompanying studio recordings from the volume editors. Students, researchers, or anyone interested in the new frontiers of music in medicine will find original cross-disciplinary connections in this volume.

Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective.