Dravet syndrome, intractable, with status epilepticus Save

Understanding Dravet Syndrome, Intractable, with Status Epilepticus

Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare genetic disorder that causes seizures in children. It is a type of epilepsy that is intractable, meaning that it is difficult to control with medication. In some cases, Dravet Syndrome can lead to status epilepticus, a life-threatening condition where seizures last for a prolonged period of time.

Dravet Syndrome is caused by a mutation in the SCN1A gene, which provides instructions for making a protein that is involved in the function of sodium channels in the brain. Sodium channels are important for the transmission of electrical signals between brain cells. The mutation in the SCN1A gene results in the channels not working properly, leading to seizures.

The symptoms of Dravet Syndrome usually appear in the first year of life, and include febrile seizures, which are seizures that occur with a fever. Over time, the seizures become more frequent and severe, and can be triggered by a variety of factors, including fever, heat, flashing lights, and stress.

1. Febrile seizures
2. Myoclonic seizures
3. Tonic-clonic seizures
4. Atonic seizures
5. Partial seizures

Dravet Syndrome is a lifelong condition, and there is currently no cure. Treatment focuses on controlling seizures and managing symptoms. This can include a combination of medications, special diets, and therapies such as physical therapy, speech therapy, and occupational therapy.

It is important for parents and caregivers of children with Dravet Syndrome to be aware of the signs and symptoms of status epilepticus, which is a medical emergency. Symptoms may include prolonged seizures, loss of consciousness, and difficulty breathing. If a child with Dravet Syndrome experiences status epilepticus, it is important to seek immediate medical attention.