Scientists have uncovered a previously unknown genetic condition responsible for severe epilepsy and developmental challenges in young children. The disorder, identified by UK researchers, often appears within the first year of life and is now thought to be one of the more common genetic causes behind complex epilepsy cases.

Named “RNU2-2-related neurodevelopmental disorder”, the condition has been linked to changes in a very small gene that plays a crucial role in brain development. Although the gene itself does not produce proteins, researchers were surprised to find that even minor alterations can have a significant impact on neurological function.

The study, published in Nature Genetics, has so far identified 84 individuals affected by the condition. However, experts believe many more cases remain undiagnosed worldwide, with a large number of people potentially carrying the faulty gene without realising. The findings were made using data from the UK’s 100,000 Genomes Project, which has been instrumental in advancing genetic research.

Researchers say the discovery offers new hope for families affected by severe epilepsy, many of whom face daily challenges linked to seizures and developmental delays. While further work is needed, scientists are optimistic that a better understanding of this gene could eventually lead to improved treatments and support for those living with the condition.