The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').

The European Concerted Action on the "Neuronal Ceroid Lipofuscinoses (NCL)", probably the most frequent group of progressive neurodegenerative disorders in children, has been the subject of a 3-year European Concerted Action (ECA-"NCL"), within the Biomed 2 programme, listed among "Rare diseases". The NCL are a lysosomal disease which have recently been confirmed by important genetic studies on the NCL which revealed a diversity of at least 8 gene loci related to this group of diseases. ECA-"NCL" represents a multi-national, multi-disciplinary network of researchers on the NCL which have provided new data on this group of diseases. In this book, clinical features, neuroradiological and electrophysiological data, morphological aspects, genetic data and biochemical results will be provided by actively engaged researchers on NCL from this Concerted Action, who have also provided major presentations at the two recent International Congresses of NCL: 1996 in Helsinki (NCL-96) and 1998 in Dallas (NCL-98). Thus, this book represents a state of the art written both for active researchers on NCL and other lysosomal and neurodegenerative diseases, as well as for those interested in NCL for other reasons, foremost patients (and their parents). Tables, illustrations, and most recent references will accomplish the text produced and edited by an editorial board consisting of participants of this ECA-"NCL". At the end of this state-of-the-art presentation, future lines of research - including therapies - will be outlined and emphasized what will have to be done to arrive at complete elucidation of this group of progressive neurodegenerative disorders.

Atlas of Epilepsies is a landmark, all-encompassing, illustrated reference work and hands-on guide to the diagnosis, management and treatment of epilepsy in all its forms and across all age groups. The premier text in the field with over one thousand images, the Atlas’s highly illustrative approach tackles the difficult subject of epileptic seizures and epileptic syndromes, accompanied by sequential photographs of each management step. Intraoperative photographs are accompanied by detailed figure legends describing nuances, subtleties, and the thought processes involved in each step, providing a fuller understanding of each procedure. The Atlas draws on the expertise of over 300 internationally-renowned experts, and is liberally interspersed with clinical insights and personal vignettes that offer helpful tips, technical advice and critical knowledge to the clinician and scholar. The thorough and complete table of contents includes dedicated sections or chapters on important topics such as neonatal and pediatric seizures; imitators of epilepsy; EEG and neuroimaging; psychiatric and quality of life aspects of epilepsy; and a complete guide to treatment options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. No other publication addresses epilepsies as thoroughly and completely as the Atlas of Epilepsies. Exhaustive and illustrative, convenient and current, this reference is sure to be the premier text on epilepsy for many years to come.

A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology