Word On Dravet Syndrome

Our grateful thanks to Dravet Syndrome UK (www.dravet.org.uk) for their contribution to our radio report, which you can hear again at the bottom of this page. (An extended version of this interview is available on our podcast which you can reach via the 'in profile page' of this site.)      

Dravet syndrome is a rare and severe form of epilepsy that begins in infancy and persists throughout life.

It is a genetic disorder primarily caused by mutations in the SCN1A gene, which affects the function of sodium channels in the brain, leading to abnormal neuronal activity.

Managing Dravet syndrome is complex and requires a multidisciplinary approach to control seizures, support development, and improve quality of life.

Symptoms of Dravet Syndrome.  Symptoms typically begin within the first year of life and include:

• Prolonged seizures (often triggered by fever, hot temperatures, or infections)
• Multiple seizure types, including tonic-clonic, myoclonic, and absence seizures
• Developmental delays and cognitive impairment
• Ataxia (problems with balance and coordination)
• Speech and language difficulties
• Hyperactivity and behavioral issues (similar to autism or ADHD)
• Increased risk of sudden unexpected death in epilepsy (SUDEP)

Who Develops Dravet Syndrome? Dravet syndrome typically appears in previously healthy infants around 6 months of age. It is a genetic condition, and most cases are due to de novo (new) mutations in the SCN1A gene, meaning they are not inherited from parents.

Risk Factors

• SCN1A gene mutation (found in about 80-85% of cases)
• Family history of epilepsy (though most cases are not inherited)
• Fever or high temperatures can trigger seizures but do not cause the syndrome itself

Treatment Options  There is no cure for Dravet syndrome, but treatment focuses on managing seizures and improving quality of life.  

Listen to this weeks radio report