Genetics Of Epilepsy And Genetic Epilepsies
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Genetics Of Epilepsy And Genetic Epilepsies
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Author : Giuliano Avanzini
language : en
Publisher: John Libbey Eurotext
Release Date : 2009
Genetics Of Epilepsy And Genetic Epilepsies written by Giuliano Avanzini and has been published by John Libbey Eurotext this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with Medical categories.
This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenome-na associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.
Genetics Of Epilepsy And Refractory Epilepsy
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Author : Alberto Lazarowski
language : en
Publisher: Biota Publishing
Release Date : 2013-03-01
Genetics Of Epilepsy And Refractory Epilepsy written by Alberto Lazarowski and has been published by Biota Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-01 with Science categories.
Epilepsy affects approximately 3% of the population, and is usually defined as a tendency to experience recurrent seizures arising from periodic neuronal hyperexcitability of unknown causes. Different genetic factors, through various mechanisms, can cause this abnormal neuronal behavior. The etiology of epilepsy is a major determinant of clinical course and prognosis. Many of the genes that have been implicated in idiopathic epilepsies code for ion channels, whereas a wide spectrum of syndromes where epilepsy is a main clinical feature are caused by mutated genes that are involved in functions as diverse as cortical development, brain malformations, mitochondrial function, and cell metabolism. Similarly, different conditions as hypoxia, trauma, infections, or metabolic unbalances can develop epileptic syndromes where upregulation of several genes could be related to the epileptogenic mechanisms. The most common human genetic epilepsies display a complex pattern of inheritance, and the susceptible genes are largely unknown. However, major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. As we continue to unravel the molecular genetic basis for epilepsies, it will increasingly influence their classification and diagnosis. A majority of epileptic patients may control their crisis with anticonvulsant drugs, however 30%–40% became refractory to pharmacological therapies and require surgical treatment. The challenge of the molecular revolution will be the design of the best treatment protocols based on genetic profiles that include both the specific mechanistic etiology of the epilepsies, as well as their potential refractory behavior to current medications. This includes also the design of new therapeutic agents and targets, so as to reduce the number of cases with refractory epilepsy and epileptogenesis, and perhaps avoid the current surgical treatment (a procedure that was first described more than 4000 years ago) except as a last option.
Genetics Of Epilepsy
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Author :
language : en
Publisher: Elsevier
Release Date : 2014-09-04
Genetics Of Epilepsy written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-09-04 with Science categories.
The book chapters cover different aspects of epilepsy genetics, starting with the "classical" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest. Authors are the leading experts in the field of epilepsy research Book covers the most important aspects of epilepsy Interesting for both scientists and clinicians
Genetics Of Epilepsy And Genetic Epilepsies
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Author : G. Avanzini
language : en
Publisher:
Release Date : 2009
Genetics Of Epilepsy And Genetic Epilepsies written by G. Avanzini and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with Epilepsy categories.
Genetics Of The Epilepsies
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Author : Gertrud Beck-Mannagetta
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Genetics Of The Epilepsies written by Gertrud Beck-Mannagetta and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
This book provides neurologists, geneticists, pediatricians, and pharmacologists with basic knowledge for genetic counselling, while putting emphasis on the evidence of heterogeneity in this field. The volume contains separate sections on population rates, family studies on selected syndromes, and special methods and topics. Two particularly topical questions concern the prospective evaluation of morbidity risk for seizures in offspring of epileptic patients and the relationship of pharmacogenetics to epilepsy. The book aims to stimulate communication across traditional disciplinary lines and to further collaborative research.
Genetics Of Focal Epilepsies
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Author : Samuel F. Berkovic
language : en
Publisher: John Libbey Eurotext
Release Date : 1999
Genetics Of Focal Epilepsies written by Samuel F. Berkovic and has been published by John Libbey Eurotext this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with Medical categories.
This volume contains contributions on genetic aspects of a wide range of focal epilepsies. It is based on an international workshop held in Avignon, France in September 1996. Topics covered include: idiopathic age-related focal epilepsies; idiopathic iocal epilepsies in infancy; autosomal dominant focal epilepsies; molecular biology; animals models; and case reports.
Pediatric Neurology Part I
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Author : Rima Nabbout
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part I written by Rima Nabbout and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
One of the most exciting areas in epilepsy has been the explosion in our understanding of the genetics of the epilepsies over the last decade. Built on a long history of careful clinical genetic studies of the epilepsies, the relatively recent discovery of epilepsy genes has enabled insights into pathways causing seizure disorders. A variety of mutational mechanisms can cause epilepsy resulting from different, and sometimes surprising, molecular processes such as copy number variation within the genome. The majority of known epilepsy genes encode ion channel subunits leading many of the genetic epilepsies to be regarded as channelopathies. Understanding how dysfunction of a mutant protein leads to hyperexcitability is key to understanding the pathophysiology of this group of serious and common childhood disorders. The architecture of the common genetic epilepsies following complex inheritance, where multiple genes are involved, is also beginning to be unraveled. The clinical approach to understanding the genetics of the epilepsies has matured and requires a detailed family history of seizures together with delineation of the child's epilepsy syndrome. Recognition of specific genetic epilepsy syndromes enables optimal treatment and prognostic and genetic counseling.
Neurobiology Of Epilepsy
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Author :
language : en
Publisher: Academic Press
Release Date : 2016-06-20
Neurobiology Of Epilepsy written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-20 with Science categories.
Neurobiology of Epilepsy: From Genes to Networks is the latest volume in the Progress in Brain Research series that focuses on new trends and developments. This established international series examines major areas of basic and clinical research within the neurosciences, as well as popular and emerging subfields. Explores new trends and developments in the neurobiology of Epilepsy Enhances the literature of neuroscience by further expanding the established, ongoing international series Progress in Brain Research Examines major areas of basic and clinical research within the field
The Epilepsies
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Author : Chrysostomos P. Panayiotopoulos
language : en
Publisher: Springer
Release Date : 2005
The Epilepsies written by Chrysostomos P. Panayiotopoulos and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005 with Medical categories.
This book gives an exhaustive account of the classification and management of epileptic disorders. It provides clear didactic guidance on the diagnosis and treatment of epileptic syndromes and seizures through thirteen chapters, complemented by a pharmacopoeia and CD ROM of video-EEGs.
Genetics Of Epilepsy
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Author : Michael E. Newmark
language : en
Publisher:
Release Date : 1980
Genetics Of Epilepsy written by Michael E. Newmark and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1980 with Medical categories.