Molecular aspects of Dravet syndrome patients in Taiwan

► A total of nine Taiwanese DS patients were enrolled in this genetic study. ► We identified five novel mutations in the SCN1A gene. ► Genome copy number variation analysis detected a novel duplication region, 4q13.1-q13.2, in one DS patient. ► This variant region contained a gene, EPHA5, related to cerebral neuron development. This region should be correlated with DS.