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

Translated title of the contribution: Dravet syndrome: Clinical features in 20 patients and genotype-phenotype correlation

Research output: Contribution to journalArticlepeer-review

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 contributionDravet syndrome: Clinical features in 20 patients and genotype-phenotype correlation
Original languageItalian
Pages (from-to)99-100
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number133-134
Publication statusPublished - Jul 2006

ASJC Scopus subject areas

  • Clinical Neurology

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