What is Dravet Syndrome?
Dravet Syndrome affects around one in every 15,000 people. In most cases, Dravet Syndrome is caused by a mutation in a gene known as SCN1a.
This gene contains instructions (genetic code) for the creation of a protein (ion sodium channel) that helps control electrical messages in the brain. A change or mutation in the genetic code may lead to the faulty functioning of this channel, causing the person with the SCN1a gene mutation to experience seizures and a variety of other symptoms.
Every child or adult with Dravet Syndrome is different, with some affected more severely than others or with different emphasis of symptoms. But for all, the condition is complex, symptoms can be interrelated and seizures can be highly unpredictable.
Dravet Syndrome is typically characterised by multiple, frequent, treatment resistant and often prolonged (febrile) seizures and sometimes rare type of seizures.
In most cases, the first seizures occur with fever and are generalised tonic-clonic (involving the whole body) or one-sided convulsions (involving half the body). You can find out more about the different types of seizures here.
Epilepsy is just one part of Dravet Syndrome. After the first year of life, the child’s development typically slows down or regresses, sometimes severely. Alongside continuing seizures, a wide range of conditions (‘comorbidities’) and issues may arise. You can find out more about comorbidities here.
Click on the images below to find out more about Dravet Syndrome or download our Understanding Dravet Syndrome leaflet.
Causes of Dravet Syndrome
Find out about the genetic mutations that cause Dravet Syndrome
Symptoms of Dravet Syndrome
Dravet Syndrome is under-diagnosed in the UK, so it is important to be aware of the signs and symptoms of this condition.
Diagnosing Dravet Syndrome
Diagnostic genetic testing for Dravet Syndrome is available in the UK from the NHS.
A History of Dravet Syndrome
How Dravet Syndrome came to be discovered and what we know today.
The Future of Dravet Syndrome
Dr Andreas Brunklaus looks ahead to the next 5 years as hopeful times for families living with Dravet Syndrome.