[Landau-Kleffner Syndrome: Current Etiopathogenesis and Management].
Аннотация
Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A (GRIN2A) gene, which encodes an NMDA receptor subunit of the same name that is involved in various neurophysiological processes. Modifications to this receptor could be associated with the clinical manifestations observed in patients. This review proposes a pathophysiological mechanism related to one of the clinical presentations of this disease, using information published in recent years, and contributes to the understanding of its pathology and the improvement of its management. This syndrome is a rare and complex disease; both its diagnosis and treatment are challenging, limiting patients' therapeutic options and compromising their quality of life.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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