Dravet syndrome: A case report with a new missense substitution as 1274 Tyr > Asp

Dravet syndrome is a severe form of epilepsy and also is called severe myoclonic epilepsy of infancy (SMEI). It appears during the first year of life with frequent febrile seizures, fever related seizures, which is rare beyond the age of 5 years. Children with SMEI typically experience poor development of language, motor skills, hyperactivity, and difficulty in making relationship. Thirty to eighty percent of patients with Dravet syndrome, which is known as classical form of SMEI, suffer from defects in a gene involved in proper function of brain cells. The patient is a 3-years-old girl presenting with a sudden epileptic seizure. She had 2-year history of severe myoclonic epilepsy and developmental delay that was diagnosed as Dravet syndrome. A novel missense substitution in sodium channel alpha subunit type 1 was detected and the novelty of substitution confirmed by molecular analysis in healthy family members as well as control group. As an early diagnosis, the clinical screening procedure used by pediatricians as well as a sodium channel alpha subunit type 1 mutation analysis could help to predict Dravet syndrome before 1 year of age, so the pediatricians could be able to manage clinical work-up properly.