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Panayiotopoulos CP. The Epilepsies: Seizures, Syndromes and Management. Oxfordshire (UK): Bladon Medical Publishing; 2005.

Cover of The Epilepsies

The Epilepsies: Seizures, Syndromes and Management.

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Preface

The epilepsies manifest with various types of epileptic seizures and comprise a broad family of many common syndromes of diverse age at onset, symptomatology, aetiology, severity, prognosis and specific management requirements.

Outstanding achievements in addressing the scientific and social aspects of epilepsies in the last 50 years should be largely attributed to the leaders and committee members of the International League Against Epilepsy (ILAE). The ILAE standardised classification and terminology for epileptic seizures and syndromes provides a fundamental framework for organising and differentiating the epilepsies. This categorisation is essential in clinical practice, randomised controlled trials of antiepileptic drugs (AEDs), epidemiology and research into these disorders. The currently valid Classification of Epileptic Seizures was published in 1981 and the last revision of the Classification of Epilepsies and Epileptic Syndromes in 1989. In June 2001, the ILAE Task Force on Classification and Terminology under the tireless and wise leadership of Pete Engel and Natalio Fejerman proposed a “diagnostic scheme for people with epileptic seizures and with epilepsy” to incorporate the significant progress that has been made in the last decade. This is planned to be a flexible and dynamic classification that will be revised periodically based on emerging new information and resolution of problems that will inevitably be identified through use. The basic concepts of the new diagnostic scheme were accepted by the ILAE General Assembly, but “none of these proposals are yet complete, nor are any intended to constitute a classification”. The different methodologies, approaches, targets and philosophies of these classifications have been authoritatively detailed in a multi-authored editorial entitled ‘Cabbages and Kings in the Classification of Seizures and the Epilepsies’ in Epilepsia (January 2003), the official journal of the ILAE, which is achieving miraculous high standards and objectivity with Bob Fisher as its Editor. The lead editorial was by Peter Wolf, the newly elected ILAE President, who is an immensely valued and respected clinician, scientist and philosopher, and he will undoubtedly make his mark in the classifications.

My previous concise book, A Clinical Guide to Epileptic Syndromes and their Treatment, was based on the new ILAE diagnostic scheme. Its success, as reflected in scientific reviews of eminent colleagues and the sale of over 10,000 copies, is a tribute to the ILAE Task Force and emphasises the need for their colossal assignment to be completed.

This new book, The Epilepsies, details the most recent advances in epileptic seizures, epileptic syndromes and their management. It is based on the ILAE classification, and practice parameter and guidelines issued by the ILAE and other recognised medical authorities. Seizures and syndromes are explored in their scientific context and also include newly described seizures, syndromes and methodologies that, in my opinion, should be appreciated by practising physicians and should be considered in future ILAE revisions and practice parameters. This is in accord with the ILAE Task Force invitation to physicians to contribute to the shaping of future revisions.

Updated to December 2004, this book encompasses: new and developing aspects and concepts about epilepsy; information about old and new developments; diagnostic approaches and methods, and factors leading to diagnostic error and misconceptions; management; and critical analysis of the relevant literature. The most appropriate modern therapies are presented objectively for everyday clinical practice. The literature, including research and pathophysiology, is critically evaluated, but priority is given only to the facts that are useful to the practitioner. The content serves as a bridge from practice to research. The text is further reinforced by the use of illustrative case reports.

The CD-ROM that accompanies this book contains clips of video EEG and reviews of patients, which provide an extremely powerful tool for documentation and teaching. In particular, clips that refer to areas of existing diagnostic uncertainty over which expert opinion differs, such as autonomic status epilepticus, Panayiotopoulos syndrome, eyelid myoclonia with absences and self-induced epilepsy, are included.

The EEG illustrations have been sourced mainly from video-EEG recordings from my personal files. High quality figures of modern brain imaging have been provided thanks to the courtesy of cited eminent colleagues.

The first chapter details the diagnostic steps necessary to establish a precise seizure and syndrome classification of patients. It is my conviction that this book serves no purpose without emphasising that “inappropriate generalisations regarding terminology, diagnosis and treatment is the single most important cause of mismanagement in epilepsies”. Effective classification of epileptic seizures and syndromes is indispensable for appropriate management and prognosis. Patients with epileptic seizures and their families are entitled to a diagnosis, prognosis and management that are specific and precise. The inclusive, monolectic diagnostic label ‘epilepsy’ is unsatisfactory for both patient and physician alike, and may result in avoidable morbidity and mortality.

The second chapter is devoted to the optimal use of EEG in the diagnosis of epilepsy. Although not a substitute for a clinical examination, EEG is the most important investigation in the diagnosis and management of epilepsy provided that it is properly performed by experienced technicians, and carefully studied and interpreted in the context of a well-described clinical setting by experienced physicians.

The third chapter is a brief account of various brain imaging methodologies and their optimal use in the diagnosis and management of epilepsies. Current optimal magnetic resonance imaging (MRI) allows in vivo visualisation of structural causes of epilepsy in over 80% of patients with focal symptomatic seizures. MRI is much superior to X-ray computed tomography in terms of its sensitivity and specificity for identifying lesional epilepsies. Functional brain imaging including magnetoencephalography is currently supplementary to MRI in clinical practice and principally in the evaluation of possible neurosurgical treatment.

The fourth chapter details the principles of therapy in the epilepsies with AEDs, surgical and other non-pharmacological treatments. The aim of therapy is total freedom from seizures without clinically significant adverse effects. This is achievable in more than two-thirds of patients with epileptic seizures. New AEDs are thoroughly reviewed and pragmatic recommendations made as to their correct indications and contraindications. The evaluation of the AEDs has been the most demanding and difficult task. Ideally, AED prescribing should be entirely evidence-based, but this is often sparse, selective and primarily designed for justifying regulatory licence requirements rather than addressing the needs of clinical practice. My recommendations are pragmatic in that they are based on a thorough review of the efficacy, tolerability, safety and interactions of AEDs after examining evidence-based reports, post-marketing reports and expert physicians’ experience of the AED in clinical use. Controlled trial data would never have been obtained for certain recommendations, such as the fact that vigabatrin and tiagabine are deleterious in absence seizures. Pragmatic and rational AED treatment is detailed in the management section of every syndrome.

In Chapters 5, 6, 7, 8, 9, 10, 11, 12, and 13, each syndrome is analysed with respect to its clinical manifestations, epidemiology, aetiology, investigative procedures and EEG, prognosis and management.

Chapter 5 is a thorough review of epileptic seizures and epileptic syndromes, and their management, in the neonatal period. The neonatal period is the most vulnerable period of life for developing seizures. Neonatal seizures demand special clinical and investigative skills in their recognition and differentiation from normal or abnormal behaviours. They may be short-lived events lasting for only a few days or signify serious malfunction or damage of the immature brain, and constitute a neurological emergency demanding urgent diagnosis and management. Recognised epileptic syndromes range from the mild and age-limited, such as benign familial neonatal seizures and benign neonatal seizures (non-familial), to the devastating early myoclonic encephalopathy and Ohtahara syndrome.

Chapter 6 describes idiopathic seizures and syndromes in infancy. These include: epileptic seizures, such as febrile seizures that do not require a diagnosis of epilepsy; idiopathic epileptic syndromes, such as benign myoclonic epilepsy in infancy, which is the earliest form of IGE; and ‘autosomal dominant epilepsy with febrile seizures plus’, which is one of the most fascinating and most common genetic epileptic disorders that is linked to many other benign and severe epileptic conditions.

Chapter 7 provides a comprehensive modern review of all aspects of the devastating epileptic encephalopathies in infancy and early childhood. These comprise West syndrome, Dravet syndrome, Lennox–Gastaut syndrome, Landau–Kleffner syndrome, epilepsy with continuous spike-and-waves during slow-wave sleep and myoclonic status in non-progressive encephalopathies. The tremendous progress that has been made in our understanding of the genetics of the epilepsies is well illustrated by Dravet syndrome. Surgical achievements are exemplified by the treatment of hypothalamic (gelastic) epilepsy, which is also included in this chapter.

Chapter 8 deals with the severe neocortical epileptic syndromes with onset in infancy and childhood, which are Kozhevnikov-Rasmussen syndrome (chronic epileptic encephalitis), hemiconvulsion-hemiplegia syndrome and migrating partial epilepsy of early childhood. As in other parts of this book, I have also explored certain myths and misconceptions, which in this case refer to the historical aspects and nomenclature of chronic encephalitis with epilepsy.

Chapter 9 is concerned with benign childhood focal seizures and related epileptic syndromes, to which I have devoted two previous monographs: Benign childhood partial seizures and related epileptic syndromes and Panayiotopoulos syndrome. Benign childhood focal seizures are the most common and probably the most fascinating and rewarding topic in paediatric epileptology. They form a significant part of the everyday practice of paediatricians, neurologists and clinical neurophysiologists who care for children with seizures. Yet, only Rolandic seizures are widely known. Panayiotopoulos syndrome, which affects around 13% of children aged 3–6 years with non-febrile seizures, remains grossly underdiagnosed, though with its acceptance into the ILAE classification, independent reports of eminent physicians from around the world and recent editorials in Neurology, the Lancet and British Medical Journal, it may become more readily recognised by clinicians. Again, I must particularly emphasise autonomic seizures and autonomic status epilepticus, which appear to be specific to childhood and may be disguised as non-epileptic symptoms of other diseases, such as encephalitis, migraine, gastroenteritis or syncope. The result is avoidable morbidity and costly medical treatments. Despite the fact that I described them 20 years ago, autonomic seizures and autonomic status epilepticus in children are still missing in a significant proportion of the literature on paediatric clinical and EEG epileptology. Searching for autonomic status epilepticus in Pediatrics, and other major paediatric journals and reputable Web sites of epilepsy foundations and associations brings “zero results”.

It appears that Rolandic seizures, Panayiotopoulos syndrome, Gastaut-type idiopathic childhood occipital epilepsy and other benign childhood clinical-EEG phenotypes are linked together in a broad age-related and age-limited benign childhood seizure susceptibility syndrome (BCSSS), which may also constitute a biological continuum with febrile seizures and benign infantile and neonatal seizures. It is my thesis that the clinical, EEG, pathophysiological and management aspects of BCSSS should be properly re-examined and redefined. Once more, I take this opportunity to repeat my plea to the relevant medical committees that practice parameters for these common epileptic disorders are urgently needed.

The IGEs, which constitute one-third of all epilepsies, are comprehensively and extensively dealt with in Chapter 10. IGEs manifest with typical absences, myoclonic jerks and GTCS, alone or in varying combinations and severity. Absence status epilepticus is common. Most syndromes of IGE start in childhood or adolescence, but some have an adult onset. They are usually life long, though a few are age related. The EEG is the most sensitive test in the diagnosis and confirmation of IGE. Childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with GTCS are well-established and well-recognised syndromes of IGE. Other syndromes, such as IGE with phantom absences may exist, and are also described. Irrespective, of whether all the syndromes of IGE constitute a biological continuum or not, the most important practical aspect is that IGEs require meticulous diagnostic precision to differentiate between absence seizures and focal seizures, primarily and secondarily GTCS, and absence status epilepticus and non-epileptic confusion or epileptic prodrome. Failure to make this differentiation results in therapeutic disasters, which is why these matters are discussed at length. Another equally crucial matter refers to continuing errors in the treatment of IGE. The fact that nearly 50% of patients with IGE are currently taking “ill-advised AED medication is a grave problem. I have tried to identify the main reasons for this mismanagement, so that they may be properly addressed and a remedy found. Reasons include: (a). diagnostic misclassification; (b). sparse or methodologically ambiguous randomised controlled trials of AEDs; (c). official guidelines and publications paying scant attention to important aspects of the management of IGE; (d). a ‘one size fits all’ policy with regard to ‘how to treat epilepsy’; and (e). formal national formularies that are conspicuously devoid of warnings about the established pro-epileptic action of certain AEDs in certain types of seizures and syndromes of IGE.

Chapter 11 incorporates the significant progress in molecular and statistical genetics that has led to breakthroughs in the mapping and identification of gene variants of genetic diseases, such as familial (autosomal dominant) focal epilepsy syndromes. Autosomal dominant nocturnal frontal lobe epilepsy, mesial and lateral familial temporal lobe epilepsy and familial focal epilepsy with variable foci are extensively described. Others, such as benign familial neonatal, and neonatal-infantile and infantile seizures, are covered in Chapters 5 and 6. These disorders are caused by mutations in genes encoding subunits of ion channels or neurotransmitter receptors. Although these findings concern only a few families, they are of immense potential importance, because these genes are implicated in a wide range of more common epileptic disorders.

Chapter 12 describes focal seizures and focal syndromes with respect to their anatomical origins in the frontal, temporal, parietal and occipital lobes. Current optimal MRI allows in-vivo visualisation of structural causes in 80% of patients with symptomatic focal epilepsies, such as hippocampal sclerosis and malformations of cortical development. Tuberculomas and cysticercosis are the main causes in developing countries. Functional brain imaging offers valuable insights and is useful in the presurgical evaluation of these patients. With so many new choices, AED treatment either as monotherapy or rational polytherapy is demanding and requires a thorough knowledge and consideration of the available medications. Medical treatment with AEDs is effective in 80% of patients; in the remaining 20% and probably many more with intractable seizures, neurosurgical resection of the offending epileptogenic region is usually successful. There is now concrete evidence to accept, diagnose and treat certain focal epilepsies on the basis of aetiology rather than simply localisation. Mesial temporal lobe epilepsy with hippocampal sclerosis, which is one of the more common and most distinct epileptic syndromes, is a striking example of this. There is now Class I evidence that 64% of those who received surgery were free of disabling seizures compared with 8% in the group randomised to continued medical therapy. This chapter also details the differential diagnosis of visual occipital lobe seizures from migraine, which is a source of considerable and continuing misunderstanding and misdiagnosis between these two distinct classes of disorder that is perpetuated in classical textbooks on epilepsies.

Reflex seizures and syndromes of reflex epilepsy are the topic of Chapter 13. Photic, pattern, fixation-off, somatosensory, reading and other modes of precipitation are described in depth. Of the recognised syndromes, idiopathic occipital lobe epilepsy, and startle and reading epilepsy are thoroughly reviewed together with others such as Jeavons syndrome (eyelid myoclonia with absences) which, based on concrete evidence, also constitute reflex epileptic syndromes awaiting formal recognition.

Chapter 14 comprises a pharmacopoeia of AEDs used in prophylactic treatment, with particular emphasis on the new AEDs.

Realistically, I have to accept that despite all my efforts, omissions and errors may be unavoidable. I regret if I have unintentionally undermined, omitted or misunderstood the work of some colleagues, and I would be grateful if this is brought to my attention. Certain statements that I have made may not meet with universal approval, but I would urge readers to give these assertions ample consideration before rejecting them.

My intention is that this book serves as: (a). a primary source of information and reference for neurologists, clinical neurophysiologists and epileptologists; and (b). as a practical guide for any clinician who treats children or adults with epileptic seizures, and any electroencephalographer who compiles their EEG reports. Other health professionals with an interest in epilepsies, and even patients and their relatives, may also find this book interesting and useful.

Copyright © 2005, Bladon Medical Publishing, an imprint of Springer Science+Business Media.
Bookshelf ID: NBK2610

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