期刊
EPILEPSIA
卷 52, 期 -, 页码 39-43出版社
WILEY
DOI: 10.1111/j.1528-1167.2011.03000.x
关键词
SMEI; Development; SCN1A mutation; Epilepsy
资金
- Mariani Foundation
P>Slowing of cognitive skills represents one of the diagnostic criteria of Dravet syndrome. This Italian multicentric study aims at clarifying the roles of epilepsy and/or underlying genetic alteration in determining the cognitive outcome. The study includes infants that were either in follow-up (retrospective study: 26 cases) and newly diagnosed (prospective study: in progress). Our multicentric study shows that slowing of cognitive achievements becomes evident during the second year of life in all cases, and that the epilepsy phenotype indeed has a prognostic value. In this study the early appearance of absences and myoclonic seizures is associated with the worst cognitive outcome; whereas convulsive prolonged seizures do not seem to represent, per se, a bad prognostic factor for mental outcome. In this study, statistical analysis failed to reveal differences in the cognitive outcome with regard to the presence and type of SCN1A mutation.
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