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

ConclusionsThis is the largest cohort of Dravet patients from within the US to report medication response with respect to genotype. Missense variants in SCN1A were most common in the voltage sensor and pore domains. All patients were most likely to respond to the recommended medication triad compared to other antiepileptic therapies.
Source: Seizure - Category: Neurology Source Type: research