What is Dravet Syndrome?

Dravet Syndrome is a rare, life-long and life limiting neurological condition. Around one in every 15,000 babies in the UK will be born with Dravet Syndrome. It’s often described as a form of epilepsy. However, epilepsy is just one part of Dravet Syndrome.

As well as severe, difficult-to-control seizures, children and adults with Dravet Syndrome have varying degrees of learning disability and a spectrum of associated conditions, known as ‘comorbidities’. 

These can include autism, ADHD, challenging behaviour and difficulties with speech, mobility, eating and sleep. Every child or adult with Dravet Syndrome is different. The range and severity of symptoms vary from person to person.

Dravet Syndrome is a life-long condition and affects people from childhood and throughout their lives. Most people with Dravet Syndrome have a good life expectancy. The oldest adult known to have a Dravet diagnosis in the UK is currently in his 70s. 

It’s likely that there are many more adults living with Dravet Syndrome. But, as a diagnosis was much more difficult to get even 10 years ago than it is today, we simply don’t know how many older people are living undiagnosed with the condition.

More than 85% of people with a diagnosis of Dravet Syndrome have a change (mutation) in the gene known as SCN1A.  

But having a mutation in the SCN1A gene doesn’t necessarily lead to Dravet Syndrome. There is a spectrum of SCN1A conditions and Dravet Syndrome lies at the severe end of that spectrum. 

Much research is currently taking place to help us better understand the relationship between the type and placement of genetic mutations and the severity of the condition. Scientists can predict whether a SCN1A mutation will lead to Dravet Syndrome or a less severe form of epilepsy.

While a faulty SCN1A gene can be inherited from a parent, most patients have no family history of Dravet Syndrome. In fact, 90% of SCN1A mutations are de novo, meaning they are not found in the patient’s parents.

There’s currently no cure for Dravet Syndrome. It is, however, an exciting and hopeful time, with much ongoing research into new medicines and treatments. This includes genetic or gene-based therapies, which seek to ‘fix’ the faulty gene that is the underlying cause of Dravet Syndrome.