The European Stxbp1 Consortium

19/12/2025

The summary of the 2025 European STXBP1 Research Roundtable is now available on ESCO's website! Check it out:

2025 European STXBP1 Research Roundtable & Family Summit Below is a summary of the 2nd European STXBP1 Research Roundtable that […]

28/11/2025

💜 What is one small thing that has made daily life a bit easier for your STXBP1 family?

A routine, a tool, a therapy, a mindset — help other families learn from your experience. Learning from one another is one of our greatest resources. 💪

Share your answer in a comment below. 🔽

11/11/2025

📣 Our First European STXBP1 Natural History Study Participant 🌟

We are pleased to share the inclusion of the very first participant in the ESCO Natural History Study! The four-year-old Rosie from Belgium bravely took part in a full day of assessments. In the morning, she met with the neuropsychologist, physiotherapist, and speech therapist at the developmental center. Followed by an afternoon visit with the pediatric neurologist for a detailed medical history, clinical examination, EEG, ECG and blood sampling. Rosie handled every step with remarkable courage and cooperation throughout the day.

Her father was proud to contribute to this important research. It was a long but rewarding day - may many more participants follow!

21/10/2025

🌍💜 Together Across Europe for STXBP1 Awareness Month 2025 💜🌍

Eight countries across Europe came together this September for STXBP1 Awareness Month, uniting to raise awareness of STXBP1-related disorders and to stand together in the search for a cure. Families and friends from Italy, Spain, France, Israel, Denmark, the Netherlands, Belgium, and Germany joined forces—covering countless kilometers and spreading hope across the continent.

This video was a collaborative effort with parents and families across ESCO countries and premiered during the European STXBP1 Summit in Heidelberg. We are deeply inspired and motivated to see what we can achieve together in 2026! 💪✨

Thanks to the incredible energy and dedication of everyone involved, nearly €25,000 was raised through local fundraisers during this year’s campaign.

🎥 Watch the video and feel the power of our community united for change.

https://vimeo.com/1129206932?share=copy&fl=sv&fe=ci

Eight countries across Europe came together this September for STXBP1 Awareness Month, uniting to raise awareness of STXBP1-related disorders and to stand together…

15/10/2025

What a whirlwind! 🌍✨

Days 2 and 3 of the European STXBP1 Research Roundtable built on the incredible momentum from Day 1.

Day 2 spotlighted cutting-edge clinical research and therapy development for STXBP1-related disorders, culminating in a dynamic roundtable that brought together experts from industry, clinics, and academia.

Day 3, the final day of the Roundtable, focused on biomarker development and clinical trial readiness — and wrapped up with another inspiring expert discussion.

The week concluded with a powerful Family Day, organized by , bringing together families from Germany and beyond. It was a day of shared perspectives, heartfelt connection, and community — across borders and within them. 💜

A heartfelt thank you to everyone who joined us last week. The energy, collaboration, and shared purpose were truly felt from the first hello to the final goodbye.

We can’t wait to reconnect in 2027 — exciting plans are already in motion! 🚀

15/10/2025

Today is SUDEP Action Day! We were happy to have the STOP SUDEP Stiftung join us in Heidelberg on Saturday to teach us more about Sudden Death in Epilepsy and what common goals we share in raising awareness. 💪

11/10/2025

Today is the STXBP1 Family Summit in Heidelberg - following the Research Roundtable over the past 3 days!

If you wish to watch online, you can connect here from 9am CEST.

08/10/2025

Day 1 of the European STXBP1 Summit was a success!

We kicked off with a deep dive into the shared and distinct mechanisms of neurodevelopmental disorders. Talks explored SNAREopathies, from SYT1 to inborn errors of synaptic transmission.

In the afternoon, we zoomed in on STXBP1-related disorders. Researchers shared groundbreaking insights on disease mechanisms, cellular models, and network level disruptors, followed by an engaging expert discussion.

Lots to fill our heads before a reception with a performance by a band of Heidelberg physicians from the children’s hospital.

The STXBP1 parents from Europe and the US also connected over beer and bratwurst at a local brewery in the old town of Heidelberg.

Looking forward to what day 2 brings!

07/10/2025

Unser 2. STXBP1-Familienwochenende ist vorbei 💜

Es war uns ein Fest, 27 STXBP1-Familien begrüßen zu dürfen!

Danke für eure Zeit, für die intensiven Gespräche, den ehrlichen Austausch – und dieses besondere Gefühl, sich einfach nicht erklären zu müssen. 💬💞

Es war so selbstverständlich, dass unsere Kinder genau so sein dürfen, wie sie sind ❤️
Die Stimmung an diesem Wochenende war einfach besonders – voller Herzlichkeit, Verständnis, Lachen, Tränen und ganz viel Zusammenhalt 💫.
Man konnte überall spüren, was unsere STXBP1-Community so stark macht: dieses „Wir-Gefühl“, das verbindet. 🫶

Danke auch an das gesamte Team des – wir haben uns so wohl gefühlt, alles wurde so liebevoll mit uns besprochen und geplant, und wir haben uns sehr wertgeschätzt gefühlt.

Ein großes Dankeschön an dich, liebe Judith Freund, dass du uns einen Tag begleitet und diese wertvollen Momente festgehalten hast 📸

Danke auch an „unseren“ Prof. Dr. Steffen Syrbe und Frau Dr. Kim Thalwitzer von der – danke, dass ihr angereist seid und uns wieder so viele wertvolle Fragen über STXBP1 beantwortet habt.

❣️Und ein besonderer Dank geht an alle unsere wundervollen STXBP1-Familien, die dieses Wochenende miteinander verbracht haben.

Wir freuen uns schon jetzt auf das nächste Wiedersehen in zwei Jahren! ✨

01/10/2025

📢 Next week is the 2nd European STXBP1 Summit & Research Roundtable in Heidelberg, Germany!

We’re excited to bring together families, clinicians, and industry partners for a week of talks, panels, and discussions—leading up to the Family Summit on Saturday, October 11.

Check out the full program here 👉 stxbp1summit2025.eu/program

We look forward to seeing many of you in Heidelberg! 💜

15/09/2025

🚴‍♀️🏃‍♂️ From one end of the Netherlands to the other – the Dutch STXBP1 community did it!

💜 Together, they raised €14,159 for ESCO — including an incredible €7,005 by Team Myrthe.

The final leg brought everyone together for a 5k walk through the Amsterdamse Bos, joined by parents, children, and friends — the perfect way to cross the finish line. 🌳✨

A huge thank you to all who biked, walked, jogged, and rode motorcycles across the country to raise awareness and support for STXBP1 research. Your energy inspires us all!

📸 Swipe to see highlights from the relay & celebrate Myrthe (last photo)!

And stay tuned for the premiere of the European-wide video in October where the Netherlands will be joined by the rest of the ESCO countries completing their relays supporting STXBP1-research in Europe this STXBP1 Awareness Month!

👉 If you would like to learn more about STXBP1 community in the Netherlands, visit www.stxbp1.nl