A Focus On: Seizures and Epilepsy
Title page of the book A Medical–Moral Account of the Most Painful and Rigorous Illness of Epilepsy, written in 1754 by Pedro de Horta, owner of the Royal Hospital of St. Peter and physician to the Capuchin convent in the village of Los Angeles, New Spain. Courtesy of the Francis A. Countway Library of Medicine, Boston, Massachusetts, USA. Taken from the frontispiece of Seizures and Epilepsy, 2nd Edition, by Jerome Engel, Jr., © 2013. DOI: 10.1093/med/9780195328547.001.0001
Epilepsy is among the most common serious diseases of the brain. One in ten people will experience at least one epileptic seizure in a normal lifespan, and one-third of these people will warrant a diagnosis of epilepsy. There are many types of epilepsy, some of which are easily treated and may remit spontaneously, while others can be associated with severe morbidity and mortality. One percent of the world’s population has active epilepsy, and 40% of these have epileptic seizures that are not controlled by medication.
According to the World Health Organization, epilepsy accounts for 1% of the global burden of disease, defined as the number of life years lost due to disability and premature death. This is equivalent to breast cancer in women and lung cancer in men. Among primary diseases of the brain, epilepsy ranks with depression and other affective disorders, Alzheimer’s disease and other dementias, and substance abuse. Epilepsy is often referred to as a ‘hidden disease’ and receives only a fraction of the resources and media attention of these other diseases, in part because it has been stigmatized in most cultures since antiquity, and in part because epilepsy is not generally recognized as life-threatening. In fact, the mortality rate for people with drug-resistant epilepsy is ten times that of the general population.
National and international professional and lay organizations are working to raise consciousness about epilepsy, in order to call attention to its tragic consequences for patients and their families, improve access to appropriate care, not only in countries with limited resources where many people receive no treatment at all, but also in the industrialized world, where very few patients with drug-resistant epilepsy are referred to specialized epilepsy centers or considered for highly effective surgical treatment.
Tremendous advances in the field have occurred in the last two-and-a-half decades. In particular, modern structural and functional neuroimaging has revolutionized diagnosis and contributed importantly to the identification of common etiologies, such as malformations of cortical development, that were not previously appreciated. Research in molecular neurobiology has elucidated fundamental neuronal mechanisms of epilepsy at the cellular and subcellular levels, and genetic investigations are yielding an increasing number of genes responsible for specific epilepsy syndromes, as well as insights into susceptibility genes that contribute to the manifestation of acquired epilepsies. The number of available anti-seizure drugs has more than doubled and offer fewer side effect profiles and drug–drug interactions, but approaches to pharmacotherapy have become considerably more complex as a result. Advanced surgical techniques and modern neuroimaging have made surgical treatment safer, more effective, and available to a much larger patient population. Other alternative treatments, such as vagus nerve stimulation, direct-brain stimulation, the ketogenic diet, and behavioral therapies, are increasingly available. An improved understanding of psychiatric comorbidities and potential shared mechanisms between epilepsy and conditions such as depression, anxiety, and autism now offer opportunities for relief from these common causes of disability for people with epilepsy.
Those who focus on diagnosis and treatment of epileptic seizures, epilepsy, and their consequences can combine their knowledge and efforts with their colleagues in other areas of medicine associated with epilepsy treatment and management. Making use of historical perspectives as well as current clinical and basic research, this collaboration will not only contribute to future management of this disease, but ultimately to the prevention and cure of epilepsy.
Jerome Engel, Jr., MD, PhD, is Director of the Seizure Disorder Center, and The Jonathan Sinay Distinguished Professor of Neurology, Neurobiology, and Psychiatry and Biobehavioral Sciences at the University of California, Los Angeles, Los Angeles, California, USA.
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