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  3. The Causes of Epilepsy
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Book description

Causation is an aspect of epilepsy neglected in the scientific literature and in the conceptualization of epilepsy at a clinical and experimental level. It was to remedy this deficiency that this book was conceived. The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into four etiological categories: idiopathic, symptomatic, cryptogenic, and provoked epilepsies. Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment. The book is a comprehensive reference work, a catalogue of all important causes of epilepsy, and a clinical tool for all clinicians dealing with patients who have epilepsy. It is aimed at epileptologists and neurologists and provides a distillation of knowledge in a form that is helpful in the clinical setting.

Reviews

'… really very good. I am not aware of anything else that deals with the causes of epilepsy as succinctly and is as well organised and user friendly. This is the sort of book that one would dip into when faced with a particularly interesting or problematic case … should be on the bookshelf of everyone who investigates and manages people with epilepsy.'

Professor Martin J. Brodie - Director, Epilepsy Unit, Western Infirmary, Glasgow

'Most of the authors are world experts on the subjects, and I admire the energy and professional network required to assemble this impressive work … it will have a huge impact.'

Source: The Lancet Neurology

'… extremely comprehensive … fills a significant void in the epilepsy literature … The chapters are well written and address both basic pathogenic mechanisms and clinical diagnosis and management … This book fills a unique niche in the field of epileptology: it is the first to carefully and concisely address the varied etiologies. It is a very readable and comprehensive book that will be valued both by practising clinicians and by trainees and basic neuroscientists. It is an essential resource and should be on the bookshelf of any clinician caring for persons with epilepsy worldwide.'

Source: Epilepsy and Behavior

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Contents

Page 1 of 5

Contents
  • Chapter 8 - Autosomal dominant nocturnal frontal lobe epilepsy
    pp 70-73
  • View abstract

    Summary

    The evolution of theories of etiology in epilepsy makes an interesting study at many levels: some theories reflect social and philosophical attitude; some, have proved totally erroneous and now even appear ridiculous; and others show scientific insight now lost and worth reappraisal. This chapter outlines the theories of etiology for the 100 years since the time of John Hughlings Jackson, whose writing has often been said to announce the dawn of modern epileptology. The focus on theories of causation of epilepsy was not on organic brain diseases, but on predisposing and exciting factors, on Jackson's emphasis on mechanisms, and on theories of inheritance, degeneration, reflex epilepsy, and auto-intoxication. The chapter talks about the works of J. Russell Reynolds, William Gowers, Cesare Lombroso, William Aldren Turner, and ends with a discussion on William Lennox, and the then current theories of etiology. Lennox reconciled his eugenic sympathies with his clinical work.
  • Chapter 10 - Severe myoclonic epilepsy of infancy or Dravet syndrome
    pp 78-84
  • View abstract

    Summary

    In this introductory chapter, a classification of the etiology of epilepsy is proposed, and this forms the basis of the sectional divisions in the rest of the book. In constructing such a classification, it is necessary to take cognisance of five particular points: Definitions, Multifactorial cause of epilepsy, Cause versus mechanism, Focal versus generalized epilepsy and Flexibility. The chapter presents the definitions of the epilepsies which are divided into four main categories: Idiopathic epilepsy, Symptomatic epilepsy, Provoked epilepsy and Cryptogenic epilepsy. The ILAE Commission recommended that a classification should be a database forming the basis of a diagnostic manual; the etological schema in this chapter should be viewed as such for instance in relation to the benign focal epilepsies or even the idiopathic generalized epilepsies. It is clear that in the future, as further knowledge accrues, some of these epilepsies may be reclassified and revised.
  • Chapter 11 - Benign adult familial myoclonic epilepsy
    pp 85-90
  • View abstract

    Summary

    Epilepsy is a disease of the brain characterized by recurring unprovoked epileptic seizures, caused by a transient abnormality of neuronal activity which results in synchronized electrical discharges of neurons within the central nervous system (CNS). This chapter focuses on the most important characteristics of voltage- and ligand-gated ion channels, their role in determining neuronal excitability, and the impact of some reported mutations on epileptogenesis in idiopathic epilepsies. It describes the importance of the thalamocortical loop and thalamic ion channels for the generation of generalized seizures. The binding of transmitters and the coupling to channel opening are complex processes which can consequently be influenced by amino acid changes in many different regions of these channels. Most anticonvulsant drugs that are in clinical use today act by modulating the function of ion channels and the chapter describes how ion channel function can be altered by genetic defects associated with idiopathic epilepsies.
  • Chapter 12 - Idiopathic generalized epilepsies
    pp 91-103
  • View abstract

    Summary

    There is often disagreement about what constitutes "epileptogenesis" and what is meant by "symptomatic epilepsy". In considering various mechanistic hypotheses, investigators have often divided potential participants in epileptogenesis into two categories: changes that are a direct result of the insult and serve to initiate the epileptogenic process, and processes that give rise to an altered brain condition that is capable of generating/supporting aberrant (hyperexcitable, hypersynchronous) neuronal discharge. These two sets of mechanisms may overlap (or turn out to be functionally inseparable). However, given the assumed temporal distinction (immediate vs. delayed) between these two categories of processes, it makes some sense to discuss them separately. The need to identify mechanisms of epileptogenesis in symptomatic epilepsies arises from a conviction that a better understanding of these processes will lead to effective antiepileptogenic therapies.
  • Chapter 13 - Benign partial epilepsies of childhood
    pp 104-112
  • View abstract

    Summary

    Genetic studies of the epilepsies involve two main aspects: detailed gathering of data and data analysis. The contribution of genetics to nosology and classification of the epilepsies should be carefully considered. If genetic criteria were prominent, epilepsy syndromes having heterogeneous clinical expressions would be classified within the same category and homogeneous syndromes caused by different genetic mechanisms would fall in different subcategories. The idiopathic generalized epilepsies constitute a group of syndromes characterized by absence seizures, myoclonus, and generalized tonic-clonic seizures. Chromosomal abnormalities are relatively common genetically determined conditions that increase the risk of epilepsy. Ethical and societal considerations are important in establishing guidelines for both genetic counseling and genetic research in the epilepsies. Standard karyotype and high-resolution chromosome analysis, fluorescent in situ hybridization (FISH), molecular karyotyping with array comparative genomic hybridization, multiple ligation-probe amplification (MLPA) and single-nucleotide polymorphism arrays (SNPs) are the standard cytogenetic and molecular techniques for diagnosis.
  • Chapter 15 - West syndrome and Lennox–Gastaut syndrome
    pp 119-134
  • View abstract

    Summary

    This chapter provides an overview of the known and unknown heritability of the pure epilepsies. The research method used to detect a causal gene variant varies according to the relative risk conferred by the risk allele and its frequency in the population. The considerable progress in identifying genes for Mendelian epilepsy is in sharp contrast to the absence of progress in identifying genetic susceptibility to more common sporadic forms of the disease. The alternative hypothesis to the common variant explanation of a common disease like epilepsy proposes that instead of a few common variants, a large number of rare variants with large effects underlie genetic susceptibility. Exciting developments in very-high-throughput DNA sequencing technology will soon offer the potential for whole-genome resequencing that will ultimately define all the rare variant contributions to epilepsy. The challenge will be how to translate these understandings to better therapies and improved patient care.
  • Chapter 16 - Unverricht–Lundborg disease
    pp 135-138
  • View abstract

    Summary

    Benign familial neonatal seizures (BFNS) are concerned with a familial history of benign neonatal seizures (BNS). Basic mechanisms in this syndrome are probably close to those involved in other types of neonatal convulsions. The immature brain is more likely to respond to any kind of injury with epileptic seizures. If recordings are made, the electroclinical presentation of seizures is relatively stereotyped. Computed tomography (CT) or magnetic resonance imaging (MRI) is not indicated as long as the neurological state of the baby remains normal. In experience, sodium valproate was effective, leading to rapid cessation of seizures. Recognizing the phenotype of BFNS is important, first because of the prediction of a favorable neurological outcome, and second for the contribution to genetic studies, which comprise a dynamic area of epilepsy research, not only for the idiopathic epilepsies but also for the development of new antiepileptic drugs.
  • Chapter 18 - Lafora body disease
    pp 143-146
  • View abstract

    Summary

    In vitro analyses of the functional properties of neuronal nicotinic acetylcholine receptor (nAChR) disclosed gain of function (i.e. an increase in acetylcholine sensitivity) of mutant receptors associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) that may underlie the neuronal network dysfunction responsible for the epileptic seizures. Positron emission tomography (PET) studies in ADNFLE patients suggest a hyperactivation of the cholinergic pathway ascending from the brainstem. An accurate description of the phenotypic aspects of the patients, including precise clinical and electroencephalogram (EEG) semiology of seizures, is mandatory for a correct diagnosis. The most frequent diagnostic dilemma is distinguishing NFLE seizures from parasomnic attacks. An effect of nicotine on the seizures was elegantly demonstrated in a controlled trial and may be explained by considering that the mutant nAChRs are altered and nicotine acts as an acetylcholine receptor agonist.
  • Chapter 19 - Mitochondrial cytopathies
    pp 147-157
  • View abstract

    Summary

    The genetic epilepsy with febrile seizures plus (GEFS+) spectrum is a complex concept to understand and derives from clinical genetic studies. In GEFS+, the clinician needs to understand the presentations that form part of the phenotypic spectrum to consider a familial epilepsy syndrome diagnosis of GEFS+. The characteristic electroencephalograph (EEG) signature is of irregular generalized spike-wave activity; however, this is not present in all affected individuals. All individuals with GEFS+ have seizures, although some have simple febrile seizures whilst others have more severe phenotypes. The main risk factor is fever in infancy and early childhood, however, some family members also have afebrile seizures of various types. As with all forms of epilepsy, seizures are more likely if the patient is tired or stressed. In the more severe phenotypes, multiple antiepileptic agents may be necessary. Often valproate and lamotrigine are useful for myoclonic-astatic epilepsy (MAE).
  • Chapter 20 - Neuronal ceroid lipofuscinoses
    pp 158-163
  • View abstract

    Summary

    This chapter describes the differential diagnosis, treatment, and outcome for severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS). The frequency of convulsive seizures seems to correlate with the severity of developmental delay, suggesting that DS might be considered as a true epileptic encephalopathy. The frequency of detectable mutations in DS is around 70-80%; truncating mutations account for nearly 50% of the abnormalities with the remaining comprising splice-site and missense mutations. The repetition of febrile seizures and/or the prolonged convulsions with unilateral clinical features are clues orienting towards a diagnosis of DS. Children may manifest myoclonic seizures at onset and be misdiagnosed as having benign myoclonic epilepsy of infancy. Valproic acid, benzodiazepines, and topiramate have been proven to have some efficacy. Mortality rates are at around 16%, mainly as a result of sudden death or seizure-related accidents.

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