期刊
PEDIATRIC NEUROLOGY
卷 48, 期 5, 页码 337-345出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2012.11.001
关键词
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Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of non-pharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management. (C) 2013 Elsevier Inc. All rights reserved.
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