Dravet syndrome
Dravet syndrome (pronunciation: /drəˈveɪ/), also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy.
Etymology
The syndrome is named after Charlotte Dravet, a French psychiatrist and epileptologist who first described the condition in 1978.
Definition
Dravet syndrome is a type of epilepsy characterized by severe, prolonged seizures that are often triggered by high body temperature (fever), hot weather, or warm water. Initial seizures are most often prolonged events and in the second year of life other seizure types begin to emerge.
Symptoms
The initial symptoms of Dravet syndrome usually occur in the first year of life. Infants typically have normal development until the onset of seizures. The seizures often begin with a fever and may be different from one episode to the next. Over time, seizures may become more frequent and severe, and children may experience developmental delays and cognitive impairment.
Causes
Most cases of Dravet syndrome are caused by a mutation in the SCN1A gene, which is involved in the function of brain cells. The mutation is usually not inherited from the parents, but occurs spontaneously in the affected child.
Treatment
Treatment for Dravet syndrome is focused on managing seizure frequency and improving quality of life. This often involves a combination of medications, dietary changes, and sometimes surgery. However, the syndrome is resistant to many antiepileptic drugs.
Prognosis
The prognosis for individuals with Dravet syndrome varies. Many children with Dravet syndrome have developmental delays and cognitive impairment, and the condition can be life-threatening.
See also
External links
- Medical encyclopedia article on Dravet syndrome
- Wikipedia's article - Dravet syndrome
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