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.
Just diagnosed?
Start here for a plain-English guide to STXBP1 and what a diagnosis means.
Learn about STXBP1 and research
See where STXBP1 research currently stands and what we're funding.
Get involved
Volunteer, fundraise or donate to help families and fund research.
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.
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.