Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy:identification of a new KCND3 phenotype and novel genes causing Dravet syndrome

Epilepsy is one of the most common pediatric neurologic disorders, with an incidence of 7/10,000 per year before the age of two (1). The etiology of epilepsy is diverse and complex, and genetic factors play an important role. Many genes have been associated with epilepsy, such as ion channel genes, genes related to transmitter trafficking, and genes associated with cell connections (2). Clarifying the genetic background of epilepsy is very important for its diagnosis, treatment, and prognosis. Importantly, it also facilitates genetic counseling and prenatal diagnosis.