Download or read book Sub molecular Mechanism of Genetic Epilepsy written by Weiping Liao and published by Frontiers Media SA. This book was released on 2022-08-29 with total page 139 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Seizures and Epilepsy written by Jerome Engel Jr and published by Oxford University Press. This book was released on 2013-01-31 with total page 737 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of 'Seizures and Epilepsy' is completely revised, due to tremendous advances in the understanding of the fundamental neuronal mechanisms underlying epileptic phenomena, as well as current diagnosis and treatment, which have been heavily influenced over the past several decades by seminal neuroscientific developments, particularly the introduction of molecular neurobiology, genetics, and modern neuroimaging. This resource covers a broad range of both basic and clinical epileptology.
Download or read book Jasper s Basic Mechanisms of the Epilepsies written by Jeffrey Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Basic Mechanisms of the Epilepsies written by Antonio V. Delgado-Escueta and published by Lippincott Williams & Wilkins. This book was released on 1986 with total page 1132 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics of Focal Epilepsies written by Samuel F. Berkovic and published by John Libbey Eurotext. This book was released on 1999 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetics of Epilepsy and Refractory Epilepsy written by Alberto Lazarowski and published by Biota Publishing. This book was released on 2013-03-01 with total page 121 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetics of Epilepsy written by and published by Elsevier. This book was released on 2014-09-04 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Download or read book Molecular Mechanism that Leads to Development of Epilepsy by a Sodium Channel Mutation written by Eric Velazquez and published by . This book was released on 2014 with total page 157 pages. Available in PDF, EPUB and Kindle. Book excerpt: The number of mutations in the voltage-gated sodium channel Nav1.1, encoded by SCN1A, that have been associated with genetic epilepsy is extremely high compared to the other sodium channel genes. The crucial function of the voltage-gated sodium channels in the central nervous system (CNS) is to regulate the influx of sodium or sodium current into the neurons. Sodium currents are required for the generation and propagation of action potentials. Subsequently the action potentials cause the release of neurotransmitters that allow the communication and synchronization among neurons in a circuit. Most of the previous mouse models of Scn1a sodium channel mutations result in loss-of-function of sodium currents and decrease of excitability of interneurons. In this study, I investigate the mechanism by which a novel SCN1A mutation, D1886Y, causes epilepsy in a mouse model. Chapter 1 examines the activation, inactivation and dynamics of sodium currents in parvalbumin-expressing (PV+) interneurons from the hippocampus. The Snc1a-D1866Y mutation in these neurons resulted in gain-of-function of sodium current. Chapter 2 investigates how the Snc1a-D1866Y mutation affects the excitability of excitatory and inhibitory neurons to generate action potentials. In PV+ interneurons, the mutation reduced the excitability to fire action potentials. A reduction in action potential firing was also detected in pyramidal neurons, but to a lesser degree. Chapter 3 examines the seizure susceptibility in vivo and in the hippocampal circuit of mice expressing the Snc1a-D1866Y mutation. Our findings suggest the existence of different molecular mechanisms for how Scn1a mutations cause epilepsy. Identification of the molecular mechanisms that lead to epilepsy is crucial for the development of new anti-epileptic drugs.
Download or read book The Epilepsies written by Chrysostomos P. Panayiotopoulos and published by Springer. This book was released on 2005 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Molecular Mechanisms in the Epilepsies of Infancy written by Sarah Elizabeth Heron and published by . This book was released on 2010 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past decade and a half, considerable advances have been made in the understanding of the molecular mechanisms underlying the idiopathic epilepsies. Technological advances and completion of the Human Genome Project have enabled continued progress. Much of this has impacted on families with epilepsies developing in infancy. Benign familial neonatal seizures (BFNS) is often caused by mutations in either of two potassium channel subunit genes, KCNQ2 and KCNQ3. Twenty-three of 36 families investigated (65%) were found to have mutations in one of these genes detectable by sequencing. Multiplex ligation-dependent probe amplification, which detects deletions and duplications affecting a specific gene, was applied to solve a further 17% of families. This revealed that deletions and duplications in KCNQ2 are a common mechanism for the pathogenesis of BFNS. The remaining unsolved BFNS families were analysed further to seek other mechanisms. A novel microduplication was identified in one family with BFNS and intellectual disability. This was characterised by comparative genome hybridisation (CGH) and fluorescence in-situ hybridisation and demonstrated the value of applying these technologies to familial as well as sporadic cases. A patient with neonatal seizures and long-QT syndrome (LQTS) was found to have a unique combination of changes in two genes associated with LQTS, supporting speculation that he had a "cardio-cerebral" channelopathy. Two "BFNS" families had mutations in SCN2A, the gene usually associated with benign familial neonatal-infantile seizures (BFNIS). BFNIS is distinguished from BFNS by a higher age of seizure onset distribution. The initial clinical misclassification highlights the phenotypic overlap between these two disorders. These families are now reclassified on molecular criteria as BFNIS families with an earlier than usual age of onset. This distinction is of clinical significance since unlike BFNIS with SCN2A mutations 15% of BFNS patients with KCNQ2 mutations have seizures later in life. The remaining three BFNS families are unsolved. For two families, genotyping of microsatellite markers linked to known BFNS loci showed that they could not have mutations at those loci. Linkage to these loci was excluded by recombination, demonstrating that at least one other gene associated with BFNS exists. The parental origin of de novo mutations in SCN1A was investigated. These mutations cause Dravet Syndrome (DS), a severe childhood epileptic encephalopathy. The mutations were found to originate on the paternal chromosome in approximately 75% of cases. The effect of parental age on mutagenesis in SCN1A was investigated and found not to be a contributing factor. This is the only epilepsy syndrome where sufficient de novo mutations have been identified for meaningful analysis of their parental origin. Finally, the causative gene for benign familial infantile seizures (BFIS) mapped to chromosome 16p11.2-q12.1 remains elusive. Array CGH revealed no pathogenic copy number changes. Sequence capture and next-generation sequencing of the genes in the linkage region did not detect a mutation in a coding region. Several unique, but nonpathogenic, variants were identified in BFIS families. This paves the way for the next steps aimed at detecting rarer molecular defects such as recurrent inversions or unstable repeats.
Download or read book Introduction to Epilepsy written by Gonzalo Alarcón and published by Cambridge University Press. This book was released on 2012-04-26 with total page 641 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers all aspects of epilepsy, from basic mechanisms to diagnosis and management, as well as legal and social considerations.
Download or read book Pharmacoresistance in Epilepsy written by Luisa Rocha and published by Springer Science & Business Media. This book was released on 2014-07-08 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.”
Download or read book Channelopathies of the Nervous System written by Michael Rose and published by Butterworth-Heinemann. This book was released on 2001 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: * A unique reference focusing on the rapidly developing field of channelopathies of common neurological disorders * Written specifically for the clinical neurologist and neuroscientist * It reviews the underlying scientific principles of ion channel function and the current research and its clinical applications
Download or read book Epilepsy written by Gregory D. Cascino and published by John Wiley & Sons. This book was released on 2021-02-22 with total page 648 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Epileptic Syndromes in Infancy Childhood and Adolescence 5th edition written by Bureau Michelle and published by John Libbey Eurotext. This book was released on 2012-11-12 with total page 682 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ultimate reference book : the 5th updated edition of the famous “blue guide”. Incluided : A DVD with new sequences completes each chapter! Epileptology changes. The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics. New entities have found their place, and a purely descriptive, “electroclinical” approach is no longer adapted in many circumstances. The 5th edition of the Blue Guide includes the most recent advances. It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making. Nevertheless, the description of epileptic syndromes, both classical and recent, remains at the core of this book.
Download or read book Epilepsy written by Jong Rho and published by CRC Press. This book was released on 2010-06-18 with total page 684 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epilepsy has afflicted humankind throughout recorded history; yet, it is only in the last half-century, that significant progress has been made in our basic understanding of the epileptic brain. Pivotal advances in drug development and surgical techniques, as well as the emergence of innovative approaches such as electrical stimulation of the nervo
