The European Stxbp1 Consortium

08/09/2026

🌍 Your voice, in your language! 🌍

We believe every family’s experience matters, no matter where you are in the world. That’s why our upcoming global STXBP1 caregiver survey will be available in all local languages across our ESCO member and collaborator countries! 🗣️

You’ll be able to share your insights, hopes, and perspectives on future therapies comfortably in your own language.

Reminder: The survey officially launches next Tuesday, September 15th!

Keep an eye on our social channels, and if you are subscribed to the ESCO or Stxbp1 Disorders mailing lists, check your inbox next Tuesday for your direct link to participate.

Help us reach every family—tag a fellow caregiver below and spread the word!

07/09/2026

STXBP1 Europe: Our Community, Our Voices 💙

Throughout STXBP1 Awareness Month, we are shining a spotlight on the lived experiences, daily triumphs, and real stories that define our global community. Rare disease journeys impact entire families, which is why we are opening this series by sharing a perspective that is so often the heart of the home—the story as an STXBP1 grandparent.

"Grands in September 2026: STXBP1 Awareness Month.

September 2026 is STXBP1 Awareness Month, and people all around the world are coming together to be a strong voice for everyone affected by this condition. STXBP1 is a rare genetic disorder that turns a family’s life upside down from one moment to the next, often bringing severe developmental delays, epilepsy, motor challenges, and a tough impact on their overall quality of life.

When a grandchild receives this rare diagnosis, it is a huge shock for grandparents, but they instantly step up to provide irreplaceable support. With endless love, patience, and understanding, they give the entire family the steady ground and stability they need so much.

Supporting Awareness Month can look many different ways, and it often starts small just by opening up and talking with friends or neighbors about this disease, which helps give the condition a much louder voice worldwide.

In everyday life, the greatest help often comes from giving parents a well-deserved break, creating small moments of rest, or spending quality time with the child’s siblings. For these families, every single developmental step a grandchild takes is a beautiful milestone to celebrate. Grandparents are a truly indispensable part of this global movement, bringing so much hope this September and paving the way for a brighter future for their grandchildren.

Of course, awareness alone is not enough, as real change always requires resources. Every single donation and every fundraiser serve as a crucial building block for the medical research teams who work tirelessly to find answers to the STXBP1 rare condition.

That is exactly why grandparents wholeheartedly support the “Move to Cure” fundraisers. With this shared goal close to their hearts, grandparents and parents are united across all borders to find a cure or better treatment that will tangibly improve the daily quality of life for their wonderful grandchildren and families."

01/09/2026

📣 Calling all STXBP1 Caregivers! 📣

This STXBP1 Awareness Month, the STXBP1 Foundation (Stxbp1 Disorders) and ESCO are launching an international Caregiver Survey on Potential Future Therapies.

Read our full press release on our website to learn more about this vital initiative!

https://stxbp1eu.org/esco-and-the-stxbp1-foundation-announce-upcoming-international-caregiver-survey-to-inform-future-therapies/

Our aim is to capture the true reality of the entire STXBP1 spectrum, so no scientific or medical background is needed to participate—we simply want to hear your hopes and experiences as a parent or caregiver.

Launch Date: September 15, 2026

The survey will be available in (now!) more languages: English, Spanish, Dutch, French, Danish, Norwegian, Hebrew, German, Italian, Polish, Slovak, and Turkish.

Where to find it: The survey link will be sent directly via email (STXBP1 Foundation & ESCO mailing lists), shared across our social media channels, and hosted on both of our websites starting September 15 until October 13.

Help shape the future of STXBP1 research and clinical trial readiness. Take the survey when it launches, and encourage other families in your local communities to participate as well.

The future of STXBP1 is in your hands! 🧬💙

06/08/2026

On July 17–19, members of the ESCO team and the European community traveled to Philadelphia for the STXBP1 Summit, organized by Stxbp1 Disorders—days filled with science, insights, and community connections.

During the Research Roundtable, our experts shared critical progress on the scientific front lines:

Ana Carreras Mascaro (VU Amsterdam) presented her work on the large-scale functional characterization of STXBP1 missense variants. Ganna Balagura (University of Genoa) unveiled the current insights into the European STXBP1 landscape using latest updates from the ESCO Registry. And Hannah Stamberger (University of Antwerp) shared interim analyses from the ESCO Natural History Study.

During the Family Meeting, caregivers, parents, STX-ers, and researchers came together to connect, learn, and see firsthand how their contribution shapes the future:

Dr. Ganna Balagura and Dr. Hannah Stamberger co-led a session about Clinical Trial Readiness, giving families a direct look at "Your Data at Work" through the ESCO study updates. Ana Carreras Mascaro translated complex science in STXBP1 in the Lab, walking families through updates on the variant spectrum and function.

From data shared in conference rooms to smiles shared over conversations with families, this summit was a powerful reminder: every registry entry, every study participant, and every scientific discovery brings us closer to a brighter future for the STXBP1 community.

Recordings of the livestream and the programs can be found here: https://www.stxbp1disorders.org/2026-summit

11/06/2026

✨ ESCO is excited to share this update with the STXBP1 community as our Natural History Study and Patient Registry reach incredible new milestones! ✨

Every single number represents a story, a family, and a vital step closer to understanding and treating STXBP1.

Here is where we stand today:
📊 16 STX-ers enrolled in our Natural History Study, advancing critical clinical research.
🌍 145 STX-ers united in our registry, driving the future of understanding STXBP1.

This effort is only just beginning. We cannot thank the community enough for being a part of this journey! 💙

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!