What is dravet sendromu?

Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare genetic disorder that affects the brain's electrical activity, resulting in seizures, delays in development, and cognitive impairment. It usually appears during the first year of life and is often difficult to diagnose.

The seizures associated with Dravet syndrome can be frequent and prolonged, lasting up to 30 minutes or more, and tend to be difficult to control with medication. Other symptoms may include ataxia, sleep disturbances, behavioral and sensory integration issues, lack of coordination, and gastrointestinal problems.

Dravet syndrome is caused by a mutation of the SCN1A gene, which plays a critical role in regulating the flow of sodium ions in brain cells. The disorder is inherited in an autosomal dominant manner, but most cases occur in individuals with no family history of the disease.

There is currently no cure for Dravet syndrome, and treatment mainly aims to control seizures and manage symptoms. Medications such as antiepileptic drugs and benzodiazepines may be prescribed, but they often provide only partial relief. Other therapies such as physical, occupational, and speech therapy, and a specialized diet may also be helpful.