Author Archives: Diogo Pinto

New Mutation Linked to Dravet Syndrome Identified in Case Report

A new mutation associated with Dravet syndrome was identified in an Iranian family with suspected disease, according to case report. The study, “Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: improving diagnosis with targeted sequencing for variants by in silico analysis,” was published in Clinical Neurology and Neurosurgery.