Update on the KCNQ2 Modifier Study – Message from Prof. Sarah Weckhuysen

We received the following update from Prof. Sarah Weckhuysen and her team at the University of Antwerp.

She shares the current status of the international Modifier Study and another major project on early treatment and development in KCNQ2-related epilepsies.

We are happy to share this important update with you.

Dear families and members of the German KCNQ2 community,

First of all, we want to thank you all sincerely for your continued support and participation in our international KCNQ2 research projects.

Several German families have contributed valuable information and DNA samples, and your involvement is helping us better understand KCNQ2-related disorders and improve care for all affected children worldwide.

With the help of families worldwide, our team in Antwerp is currently working on two complementary clinical studies that explore why some children with the same KCNQ2 variant have milder or more severe outcomes. The main effect comes from the KCNQ2 variant itself, but we believe that other factors, both environmental and genetic, also play a role.

1. Study on early treatment and development

This study has just been completed and submitted for publication in a scientific journal. It will now be reviewed by other experts in the field. Although not yet published, we strongly believe it provides important insights for clinicians caring for individuals with KCNQ2-related epilepsies.

The study included data from 289 children with a pathogenic KCNQ2 variant from 21 countries, including several from Germany, making it the largest KCNQ2 study so far.

Using detailed clinical information, we focused on how early treatment with specific antiseizure medications — sodium channel blockers such as carbamazepine and oxcarbazepine — influences both seizure control and development.

We confirmed that, even though they may not work in every child, sodium channel blockers were the most effective medicines for seizure control in children with certain KCNQ2 variants (“loss-of-function” types).

Most importantly, when these medicines were started within the first months of life, children with the severe form of the disease often showed better developmental outcomes later on.

This means that identifying KCNQ2-related epilepsy early and choosing the right medication quickly can make a real difference — not only for seizure control but also for long-term development. These findings provide clinically relevant evidence for doctors treating newborns with genetic epilepsies, highlighting how crucial early diagnosis and treatment decisions can be.

2. Study on genetic modifiers

The second project focuses on genetic factors that may modify disease severity. Even children with the same KCNQ2 variant can have very different developmental outcomes, and we want to understand why.

Thanks to the help of families from around the world — including several from Germany — we have now generated whole genome sequencing data on 200 individuals with KCNQ2 variants.

This allows us to look across all genes in the genome to find other genetic variants that might influence how the KCNQ2 variant manifests.

We have just started analyzing these data and expect first results during the coming year. These insights could help move us towards more personalized care in the future and may point to new biological pathways that could improve outcomes for children with KCNQ2 mutations.

We are deeply grateful to all families for their trust and collaboration.

Your participation makes this international effort possible and directly contributes to improving diagnosis, treatment, and long-term outcomes for children with KCNQ2-related disorders.

With warm regards and gratitude,
Sarah Weckhuysen

A Note from the KCNQ2 e.V. Team

We would like to express our heartfelt thanks to Prof. Sarah Weckhuysen and her entire team for their tireless work, dedication, and commitment to our children and families.

Their research is invaluable and gives so many of us hope that we will continue to better understand KCNQ2 and one day find more targeted treatment options.

From the bottom of our hearts — thank you for everything you do, on behalf of all families of KCNQ2 e.V. Germany. 💜

With appreciation,
The KCNQ2 e.V. Team

Disclaimer

The above information is based on a communication from Prof. Sarah Weckhuysen, University of Antwerp, and is provided for informational purposes only. It does not replace medical advice or professional treatment recommendations. For medical concerns, please consult your healthcare provider.