Outlining a core neuropsychological phenotype for Dravet syndrome

被引：17

作者：

Battaglia, Domenica ^{[1
]}

Ricci, Daniela ^{[1
]}

Chieffo, Daniela ^{[1
]}

Guzzetta, Francesco ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Child Neurol & Psychiat Unit, Largo Gemelli 18, I-00168 Rome, Italy

来源：

EPILEPSY RESEARCH | 2016年 / 120卷

关键词：

Dravet syndrome; Epileptic encephalopathy; Channelopathy; Neuropsychological phenotypes; Visuoconstructive ability impairment; SEVERE MYOCLONIC EPILEPSY; REDUCED SODIUM CURRENT; LONG-TERM COURSE; SCN1A MUTATIONS; COGNITIVE-DEVELOPMENT; FOLLOW-UP; SEIZURES; DORSAL; ENCEPHALOPATHY; CHILDREN;

D O I：

10.1016/j.eplepsyres.2015.11.020

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An up-to-date review on neuropsychological phenotypes in Dravet syndrome is reported. After recalling the results of various though not numerous studies in the literature, primarily retrospectively, the hypothesis of an original neuropsychological phenotype in Dravet syndrome is presented, consisting of a defect in sensorimotor integration, especially of visuoconstructive abilities. That is particularly evident in the less impaired patients and in the first several years of life. This core phenotype is eventually considered inside the analysis of the etiological multifactorial origin of the cognitive decline, which is especially expressed by the encephalopathy/channelopathy controversy. (C) 2015 Elsevier B.V. All rights reserved.

引用

页码：91 / 97

页数：7

共 56 条

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