Multimodal Analysis of Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

We aimed to improve the classification of missense variants in patients with Dravet syndrome (DS) by combining and modifying the current variants classification criteria to minimize inconclusive test results. We established a score classification workflow based on evidence of pathogenicity to adapt the classification of DS-related missense variants. In addition, we compiled the variants reported in the literature and our cohort and assessed the proposed pathogenic classification criteria.