A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome

► The SCN1A and SCN1B genes were tested for mutations in two Dravet patients. ► No mutation was revealed in the SCN1A and SCN1B genes by sequencing analyses. ► Eleven known SNP were identified in the SCN1A gene and composed a putative disease-associated haplotype in Dravet patients. ► One of the two patients with putative disease-associated haplotype in SCN1A had also one known SNP in the SCN1B gene. ► We reported the first case of DS which combined polymorphisms in two neuronal voltage-gated sodium-channel subunit genes.