Manchester researchers pinpoint gene behind recessive RNU2-2-related disorder in children
Scientists have pinpointed a gene behind a rare and severe epilepsy in children, called recessive RNU2-2-related neurodevelopmental disorder.
This condition brings on seizures and developmental delays before a child's first birthday, making it tough for them to learn basic skills.
The discovery comes from teams at the University of Manchester and Manchester University NHS Foundation Trust.
Study suggests millions could be carriers
The study suggests up to one in 100 people could unknowingly carry this gene, meaning millions worldwide might be carriers.
If both parents have it, there's a 25% chance their child could be affected.
Real-life cases like Ava Begley from Sydney highlight how tricky diagnosis can be, but connecting her symptoms has given hope for better testing and treatment in the future.