A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome

摘要

Purpose: Dravet syndrome is an early-onset epileptic encephalopathy caused most often by loss-of-function SCN1A variants. Following recognition of its genetic basis and unique clinical features, Dravet syndrome has become one of the most well-studied genetic epilepsies. We sought to evaluate the genetic diversity and correlative seizure phenotype, comorbidities, and response to antiepileptic therapies of patients with clinically-diagnosed Dravet syndrome seen in a tertiary care center. The goal of this study was to examine genotypephenotype correlations and to ascertain if specific antiepileptic therapies may be more effective on the basis of genetic test result alone.