User:Mr. Ibrahem/Dravet syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a form of epilepsy that generally begins in the first year of life. Symptoms include prolonged seizures (status epilepticus) that are often triggered by hot temperatures, fever, or visual effects. Initially seizures may be focal or generalized. Complications may include intellectual dysfunction and behavioral problems.

The cause if often a genetic mutation in the SCN1A gene. Around 90% of mutations newly occur during early development, rather then being inherited from a person's parents. A family history of seizures is present in nearly half of cases. Diagnosis is based on symptoms and genetic testing. MRI of the brain is typically normal initially, though may show changes such as atrophy in some adults.

Treatment is with anticonvulsant medications, such as clobazam. Fenfluramine and cannabidiol have specifically been approved for the condition. A ketogenic diet may also help. Up to 20% of people die by adulthood.

Dravet syndrome occurs in about 1 in 16,000 people. It is the underlying cause of about 2 in 1,000 cases of epilepsy. Males are affected about twice as often as females. The condition was first described in 1978 by Charlotte Dravet.