Sindrome di Dravet: Aspetti clinici in 20 pazienti e correlazione genotipo-fenotipo

Aims of the study were a) to identify the early manifestations of Dravet Syndrome that can prompt an early clinical diagnosis and genetic investigation; b) to evaluate correlation between ictal and interictal epileptiform activity and deterioration; c) to describe genotype-phenotype correlation. Our data demonstrate that a) diagnosis of Dravet Syndrome must be considered in the first semester of life in a normal child with afebrile focal seizures or febrile epileptic status; b) in most patients Dravet Syndrome shows the typical characteristics of epileptic encephalopaty; c) the group of negative patients for SCN1A mutation presents a less severe clinical phenotype.