Cacna1E International

10/11/2026

At the end of October, we had our biannual meeting to keep pushing forward. Parents' side and researcher's side could ask questions & got answers.

The following graphic, which provides an overview of the that has been underway in Tübingen for 10 years, was kindly provided to us by Dr. Hedrich-Klimosch and her colleagues.

It impressively demonstrates the dedication with which work on CACNA1E research is being carried out every single day.

Active members of the association have already received this graphic—along with a translation—via our newsletter.

🧬 Are you an affected family and not yet a member? Join our community for free ➡️
www.cacna1e.org/membership

02/11/2026

For all our children we miss every day 🩶

31/10/2026

Happy 3rd Birthday, CACNA1E International 💚

The association was founded in 2023 through Bianca and Bernhard Winter from Austria to support research and to ensure that no one has to walk this path alone.
Three years later, we have found more and more affected families around the world, collected almost €100,000 in donations together, and built many friendships across countries and continents that would never have come to life otherwise ✨️

A special thank you to and Bernhard- without them we would never have come so far.Although their son Martin is sadly no longer with us, they both continue to dedicate so much passion and commitment to the association and to supporting all CACNA1E families.

It is therefore time to say THANK YOU Bianca and Bernhard!

24/10/2026

24.10.2026- Tag der pflegenden Eltern 💚Pflegende Eltern leisten jeden Tag Unglaubliches. Sie schenken Liebe, Geborgenheit, Kraft und Zeit – oft weit über ihre eigenen Grenzen hinaus.

Sie organisieren den Alltag, begleiten Therapien, übernehmen Verantwortung und kämpfen für die bestmögliche Versorgung ihrer Kinder. Und das alles, während sie selbst manchmal kaum Zeit zum Durchatmen finden.

Doch hinter all dieser Stärke stehen auch Menschen, die müde werden, zweifeln, Sorgen haben.

Heute möchten wir all diesen Eltern sagen:

Wir sehen euch. Wir hören euch. Wir bewundern eure Stärke. Und wir wissen, dass ihr nicht immer stark sein müsst. 💚

Ihr dürft erschöpft sein. Ihr dürft Hilfe annehmen. Ihr dürft auch an euch selbst denken.

Denn pflegende Eltern brauchen nicht nur Anerkennung, sondern auch Entlastung, Unterstützung und Menschen, die an ihrer Seite stehen. 💚

16/10/2026

White Cane Safety Day in Arlington, Texas.
Visual impairment walk in memory of our CACNA1E angel, Elanor 🤍💫

14/10/2026

We are meeting again with the CACNA1E expert team from the DECADE soon.

Do you have questions about symptoms, medical aspects of the genetic change, or other topics that you would like answered by CACNA1E experts?

If yes, send them over via DM or email!

02/10/2026

Our Ali Dashty at the n-lorem Patient Panel.

In this powerful panel, nano-rare patient families share their personal diagnostic journeys, which are often long, complex, and filled with uncertainty, and describe how they ultimately found n-Lorem. Panelists reflect on what it meant to discover a path forward for treatment, and how their experience with n-Lorem has shaped their expectations, hopes, and understanding of what’s possible. This session offers a unique and deeply human perspective on the impact of science and individualized care for those navigating the unknown.

✨ 6 DAYS TO GO! ✨

We’re getting closer! 🎉 Don’t miss out on this exciting event—join us in person or virtually and be part of the experience!

Register today using this link🔗: https://www.nlorem.org/2026-nrpc-registration/

15/09/2026

Our deepest condolences go out to Elanor‘s family.
Rest in peace little Elanor and one day we will see each other again 💙🙏🕊️

19/05/2026

A new CACNA1E publication by Ivana Souza, Gerald Zamponi et al. appeared at the beginning of May.

For the first time, clearly defined loss-of-function variants were investigated, described, and discussed.

➡️https://www.mdpi.com/1422-0067/27/9/4103

🧬 H151L (also His151Leu)
🧬 M163T (also Met163Thr):
🧬 R1182C (also Arg1182Cys):

In summary, LOF mutations can present with a wide range of symptoms. Epilepsy, no epilepsy. Developmental delays, no developmental delays; autism, no autism – anything is possible, nothing is certain.

It is therefore very difficult to distinguish LoF variants from GoF variants.

A better assessment will be possible if many patients participate in the CACNA1E Natural History Study and share their medical histories.

If you're not yet part of the CACNA1E Natural History Study "DECADE," please join!

De novo variants in CACNA1E, the gene encoding the Cav2.3 voltage-gated calcium channel, are often associated with severe neurodevelopmental disorders, including developmental and epileptic encephalopathy. All reported variants up to date have exhibited gain-of-function effects on their biophysical....