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.
|Translated title of the contribution||Dravet syndrome: Clinical features in 20 patients and genotype-phenotype correlation|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2006|
ASJC Scopus subject areas
- Clinical Neurology