Síndrome de Dravet: etiología, fisiopatología, diagnóstico y tratamiento

Abstract

lntroduction: Dravet syndrome, severe myoclonic epilepsy of early childhood characterized by being drug• resistant dueto mutations in the SClNA gene which is the main basis ofits pathophysiology, diagnosis, ad treatment, Objective: To develop a literature review on the etiology, pathophysiology, diagnosis, and treatment of Dravet syndrome. Methodology: A bibliographic review was conducted in the scientific databases of Google Scholar, PUBMED, Redalyc, Dialnet, Scielo, Web of Science, Taylor and Francis, SCOPUS, including systematic reviews articles, meta-analysis, cohort studies, case reports, literature reviews, and gray literature within the period 2016 to 2021, using keywords contained in the DECS and MeSH database. Results: 158 articles were obtained in total according to the search methodology, ofwhich 17 of them were duplicates, when applying the inclusion and exclusion criteria 115 articles were discarded, leaving 26 available articles that were collected in MENDELEY bibliographic manager. Conclusions: Dravet syndrome is a very rare and little-studied pathology that occurs in 1 in 20.000 children in early childhood associated with fever. The main diagnosis is genetic study. lt is characterized by being drug• resistant, so a combination of antiepileptic drugs plus a ketogenic diet is generally used; even the use of cannabidiol is beneficia! for patients as it reduces seizures in almost 70% cases.