The SCN1A-Epilepsy Prediction Model
Today, advances in the analysis of genetic testing means that clinicians no longer need to wait for symptoms to evolve before confirming Dravet Syndrome or GEFS+.
Even with a positive genetic test and the clinical presentation of the typical characteristics of Dravet Syndrome, clinicians can still be reluctant to make a diagnosis until developmental delays are observable (around the ages of 2-3), in case the patient has a milder form of the condition, such as GEFS+. This period of 'not knowing' is extremely challenging for caregivers and, critically, it can prevent infants from accessing appropriate treatment at an early stage. Early diagnosis and treatment offers the best chance of improving seizures and the other aspects of the condition.
In 2021, an international collaboration of researchers led by Professor Andreas Brunklaus et al, developed the SCN1A-Epilepsy Prediction Model. This model calculates the probability of developing Dravet Syndrome versus GEFS+ based on a given SCN1A variant and the age of seizure onset. The model considers the potential effect of the queried variant and compares it with an international database of 1,018 SCN1A patients with Dravet Syndrome or GEFS+ from seven countries. The model is intended to be used only by healthcare professionals. You'll need to input key information such as when the first seizure happened. The result allows you to predict if the person will be likely to develop Dravet Syndrome or GEFS+.
Diagnosing and treating Dravet Syndrome
Discover the typical features of Dravet Syndrome – intervene early and you can change someone’s life.
What to do if you suspect Dravet Syndrome
Don't delay if you suspect Dravet - diagnosis and intervention is critical.
Could it be Dravet Syndrome?
Download our diagnosis guide for healthcare professionals.