癫痫
癫痫综合征
医学
全身性癫痫
病因学
脑电图
儿童癫痫
儿科
精神科
神经科学
出处
期刊:Continuum
[Ovid Technologies (Wolters Kluwer)]
日期:2022-04-01
卷期号:28 (2): 339-362
被引量:2
标识
DOI:10.1212/con.0000000000001077
摘要
ABSTRACT PURPOSE OF REVIEW This article reviews the clinical features, typical EEG findings, treatment, prognosis, and underlying molecular etiologies of the more common genetic epilepsy syndromes. Genetic generalized epilepsy, self-limited focal epilepsy of childhood, self-limited neonatal and infantile epilepsy, select developmental and epileptic encephalopathies, progressive myoclonus epilepsies, sleep-related hypermotor epilepsy, photosensitive occipital lobe epilepsy, and focal epilepsy with auditory features are discussed. Also reviewed are two familial epilepsy syndromes: genetic epilepsy with febrile seizures plus and familial focal epilepsy with variable foci. RECENT FINDINGS Recent years have seen considerable advances in our understanding of the genetic factors underlying genetic epilepsy syndromes. New therapies are emerging for some of these conditions; in some cases, these precision medicine approaches may dramatically improve the prognosis. SUMMARY Many recognizable genetic epilepsy syndromes exist, the identification of which is a crucial skill for neurologists, particularly those who work with children. Proper diagnosis of the electroclinical syndrome allows for appropriate treatment choices and counseling regarding prognosis and possible comorbidities.
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