Supportingfamilies.Acceleratingresearch.
STXBP1 UK Foundation connects and supports families affected by STXBP1-related disorder, and funds the research that's working towards better treatment — and, ultimately, a cure.
What is STXBP1?
STXBP1-related disorder is a rare genetic condition caused by changes in the STXBP1 gene. It can cause epilepsy, developmental delay, movement difficulties and a wide range of other symptoms — different for every child. It affects an estimated 1 in 30,000 births, but many families feel alone with a diagnosis their GP has never heard of.
At a glance
- • Caused by a change in the STXBP1 gene, usually not inherited
- • Most children are diagnosed after developmental delay or seizures
- • No two children with STXBP1 present the same way
- • Research into targeted treatments is actively underway
News & research
What's happening across the STXBP1 community.
Summary of the First Online Meeting for the STXBP1 community
On Sunday 13th of September, the trustees of the Foundation met virtually with the STXBP1 community to update them on what’s been happening behind the scenes for the STXBP1 Foundation UK.
STXBP1 Research in 2026: A New Era of Possibility
Where are we currently with research in STXBP1 and how does the future shape up?
Every family deserves to feel less alone
Whether it's a donation, volunteering your time, or simply sharing your story, there are lots of ways to support the STXBP1 community.