Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study

The prevalence of DS is found to be 1 in 20,000 to 1 in 40,000 of the general population, with a male-to-female ratio of 2:11. Variants in the SCN1A gene which codes for the alpha subunit of the voltage-gated sodium channel 1.1 composed of 26 coding exons, are found in more than 80% of patients with DS, which includes severe myoclonic epilepsy of infancy (SMEI) and severe myoclonic epilepsy borderland (SMEB) or Dravet borderline phenotype [1–5]. The latter patients however have a better outcome compared to DS patients.

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