Genetics Of The Epilepsies

Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.

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.

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

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.

Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.

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.

Designed to provide a comprehensive but accessible introduction to epilepsy and seizure disorders, Epilepsy, 2nd edition provides state-of-the-art information in a concise format useful to a wide audience, from neurology residents to epilepsy fellows and practitioners. This illustrated guide to the assessment, diagnosis, and treatment of epilepsy is a valuable resource enabling clinicians to stay on top of the latest recommendations for best practice.

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.