Outlining a core neuropsychological phenotype for Dravet syndrome

Abstract

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.

Keywords: Channelopathy; Dravet syndrome; Epileptic encephalopathy; Neuropsychological phenotypes; Visuoconstructive ability impairment.