Abstract
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 |
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Original language | Italian |
Pages (from-to) | 99-100 |
Number of pages | 2 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 133-134 |
Publication status | Published - Jul 2006 |
ASJC Scopus subject areas
- Clinical Neurology