Diagnóstico temprano del síndrome de Dravet: aportaciones de la clínica y la biología molecular

Abstract

Alterations in SCN1A gene cause most cases of Dravet syndrome. This finding has increased scientific interest in the syndrome, helping to better define its clinical features and facilitating treatment. AIMS: To update the knowledge on Dravet syndrome and to discuss the role of the molecular studies in improving early detection and specific management of the syndrome. DEVELOPMENT: We review the current information on the causes, clinical and electrical characteristics, treatment and complications of Dravet syndrome. Special emphasis is made on early detection. CONCLUSIONS: The phenotype of Dravet syndrome is now better defined and early detection is already possible. As a consequence, it is now possible to use more specific antiepileptic drugs and to avoid harmful treatments. The benefits of better and prompter control of seizures and earlier cognitive interventions need to be demonstrated in prospective studies of children diagnosed in their first year of life.