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Epilepsy

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Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. An epileptic seizure is the clinical manifestation of an abnormal, excessive, and synchronized electrical discharge in the neurons. It is estimated that active epilepsy afflicts slightly more than 1% of the population in the USA.

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  • There is high variability in the response to antiepileptic treatment across people with epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the genetics and neurobiology of the epilepsies are establishing the basis for a new era in the treatment of epilepsy, focused on each individual and their specific epilepsy. Variation in response to antiepileptic drug treatment may arise from genetic variation in a range of gene categories, including genes affecting drug pharmacokinetics, and drug pharmacodynamics, but also genes held to actually cause the epilepsy itself.
  • Studies have consistently shown that about one-half of cases tend to achieve prolonged seizure remission. However, more recent reports on the long-term prognosis of epilepsy have identified differing prognostic patterns, including early and late remission, a relapsing-remitting course, and even a worsening course (characterized by remission followed by relapse and unremitting seizures). Epilepsy per se carries a low mortality risk, but significant differences in mortality rates are expected when comparing incidence and prevalence studies, children and adults, and persons with idiopathic and symptomatic seizures. Sudden unexplained death is most frequent in people with generalized tonic-clonic seizures, nocturnal seizures, and drug refractory epilepsy.
    • Ettore Beghi in: (2020). "The Epidemiology of Epilepsy". Neuroepidemiology 54 (2): 185–191. DOI:10.1159/000503831.
  • Acquired brain lesions can alter the anatomical pattern of epileptic susceptibility by selectively lowering or raising seizure thresholds in specific cerebral areas. Reactive seizures induced by nonspecific precipitating factors can have focal features when such lesions exist. For instance, cortical scars are common in alcoholics who have experienced multiple episodes of head trauma. When these scars are not sufficiently epileptogenic to cause spontaneous ictal events, they can generate focal seizures during alcohol withdrawal. These are reactive seizures and should not be considered evidence for a chronic focal epilepsy disorder ... Another common example is the elderly stroke patient with hemiparesis and a systemic toxic or metabolic insult. If the damaged brain has an elevated threshold for seizure generation or perhaps a decreased ability to generate motor manifestations of the seizure, ictal symptoms of a generalized reactive epileptic event can be limited to the side contralateral to the hemiparesis.
  • Epilepsy is one of the most common serious brain conditions, affecting over 70 million people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and older age groups. Progress in genomic technology is exposing the complex genetic architecture of the common types of epilepsy, and is driving a paradigm shift. Epilepsy is a symptom complex with multiple risk factors and a strong genetic predisposition rather than a condition with a single expression and cause. These advances have resulted in the new classification of epileptic seizures and epilepsies. A detailed clinical history and a reliable eyewitness account of a seizure are the cornerstones of the diagnosis. Ancillary investigations can help to determine cause and prognosis. Advances in brain imaging are helping to identify the structural and functional causes and consequences of the epilepsies. Comorbidities are increasingly recognised as important aetiological and prognostic markers.
  • Neurosurgery is an underutilized treatment that can potentially cure drug‐refractory epilepsy. Careful, multidisciplinary presurgical evaluation is vital for selecting patients and to ensure optimal outcomes. Advances in neuroimaging have improved diagnosis and guided surgical intervention. Invasive electroencephalography allows the evaluation of complex patients who would otherwise not be candidates for neurosurgery.
    • Vejay N. Vakharia, John S. Duncan, Juri-Alexander Witt, Christian E. Elger, Richard Staba, and Jerome Engel in: (2018). "Getting the best outcomes from epilepsy surgery". Annals of Neurology 83 (4): 676–690. DOI:10.1002/ana.25205.
  • Following an episode of autoimmune encephalitis, patients experience a variety of neurocognitive sequelae and are at risk for seizures; however our understanding of the true impact of these are limited to case series and retrospective studies ... Not only are seizures a common initial presentation of autoimmune encephalitis, but many patients develop post encephalitis epilepsy ...
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