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This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').
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Thanks to advanced imaging techniques, it is now possible to recognise in vivo structural alterations of the cortex leading in many patients to epileptic syndromes, frequently resistant to pharmacological treatment. Areas analysed in this book are: mechanisms of cortical development; animal models of neuronal migration disorders mimicking human pathology; electroclinical, neuroradiological and neuropathological studies of the different forms of cortical dysplasia. This volume includes contributions from neurologists, epileptologists, neuropaediatricians as well as paediatricians and neuroscientists, stimulating a multidisciplinary discussion to improve diagnostic and therapeutic strategies.
Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.