Genetics Of Epilepsy And Refractory Epilepsy

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.

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.

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.

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.

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

Although more than 10 new antiepileptic drugs have been developed in the past decade, epilepsy remains resistant to drug therapy in about one third of patients, many of whom struggle with the disease their entire lives. Managing these patients is a challenge and requires a structured multidisciplinary approach. The book includes chapters on all issues related to pharmacoresistance in epilepsy and describes recent developments in the pathogenesis and treatment of this disorder. It addresses abnormalities in inhibitory mechanisms, epilepsy-related changes to the immune system, development of pharmacoresistance caused by chronic exposure to antiepileptic drugs, and novel therapeutic strategies for preventing or slowing down the progression of the disease. Clinicians and basic scientists alike will find up-to-date information on the development of pharmacoesistance, as well as reviews of mechanisms associated with epilepsy that may help them consider novel strategies for preventing the development of pharmacoresistance in the first place. The book also features information on new therapeutic strategies for control of epilepsy, such as transcutaneous electrical stimulation and virtual screening of new antiepileptic drugs. Pharmacoresistance in Epilepsy: From Genes and Molecules to Promising Therapies is useful to anyone working in the field, whether they’re studying epilepsy in the lab or treating it in a doctor’s office.”

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.

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.

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

Covers all aspects of epilepsy, from basic mechanisms to diagnosis and management, as well as legal and social considerations.