top of page
La ricerca per SLC6A1

Prevalence and diagnosis

  • Genetic testing plays a crucial role in epilepsy care.

​

  • Monogenic epilepsies are attractive targets for precision therapies due to their well-defined molecular mechanisms - but the first step toward precision medicine is precision diagnosis.

​

  • Strong collaborations between clinicians, geneticists, basic scientists, pharma, and patient advocacy groups are essential for progress.

Rikke Steensbjerre Møller, Danish Epilepsy Centre, on LinkedIn

image.png

Rikke Steensbjerre Møller emphasizes that genetic sequencing is the first step towards a personalized treatment for epilepsy. At SLC6A1 SWITZERLAND, we fully share this vision: we believe that every patient, regardless of age, who presents symptoms such as intellectual disability, epilepsy, autism, or other neurological disorders, deserves a thorough investigation to identify the underlying causes.

​

Today, genetic sequencing is an essential tool for achieving a complete diagnosis and can no longer be excluded from medical evaluations.

​

To better understand the situation in Switzerland, we have launched a national survey to determine how many cases of the SLC6A1 gene mutation have been identified so far, involving all medical genetics institutions in the country. Considering that the SLC6A1 mutation affects about one person in 38,000, we would expect to find approximately 237 patients across Switzerland. Unfortunately, the number of diagnosed cases remains very low — an alarming indication of a serious lack of genetic diagnoses.

 

We hope this gap will be addressed as soon as possible.

bottom of page