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Title: Epilepsy.
Austin Authors: Devinsky, Orrin;Vezzani, Annamaria;O'Brien, Terence J;Jette, Nathalie;Scheffer, Ingrid E ;de Curtis, Marco;Perucca, Piero 
Affiliation: Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY, USA
Laboratory of Experimental Neurology, Department of Neuroscience, IRCCS 'Mario Negri' Institute for Pharmacological Research, Milan, Italy
Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia
Department of Neurology, Alfred Health, Melbourne, Victoria, Australia
Departments of Neurology and Medicine, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, Victoria, Australia
Department of Neurology and Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Department of Paediatrics, The University of Melbourne, and Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia
Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Issue Date: 3-May-2018 2018-05-03
Publication information: Nature reviews. Disease primers 2018; 4: 18024
Abstract: Epilepsy affects all age groups and is one of the most common and most disabling neurological disorders. The accurate diagnosis of seizures is essential as some patients will be misdiagnosed with epilepsy, whereas others will receive an incorrect diagnosis. Indeed, errors in diagnosis are common, and many patients fail to receive the correct treatment, which often has severe consequences. Although many patients have seizure control using a single medication, others require multiple medications, resective surgery, neuromodulation devices or dietary therapies. In addition, one-third of patients will continue to have uncontrolled seizures. Epilepsy can substantially impair quality of life owing to seizures, comorbid mood and psychiatric disorders, cognitive deficits and adverse effects of medications. In addition, seizures can be fatal owing to direct effects on autonomic and arousal functions or owing to indirect effects such as drowning and other accidents. Deciphering the pathophysiology of epilepsy has advanced the understanding of the cellular and molecular events initiated by pathogenetic insults that transform normal circuits into epileptic circuits (epileptogenesis) and the mechanisms that generate seizures (ictogenesis). The discovery of >500 genes associated with epilepsy has led to new animal models, more precise diagnoses and, in some cases, targeted therapies.
DOI: 10.1038/nrdp.2018.24
ORCID: 0000-0002-2311-2174
Journal: Nature reviews. Disease primers
PubMed URL: 29722352
Type: Journal Article
Appears in Collections:Journal articles

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