Scientists in Manchester have discovered one of the most common genetic causes of severe epilepsy in children, a breakthrough that is already transforming lives and offering long-awaited answers to families across the world.
Researchers at Manchester University NHS Foundation Trust and The University of Manchester, working through the NIHR Manchester Biomedical Research Centre, have identified a newly recognised condition now named Recessive RNU2‑2‑related neurodevelopmental disorder.
The condition causes difficult‑to‑control seizures and profound developmental delays, usually beginning in the first year of life. The findings have been published in Nature Genetics.
Among the first to receive a diagnosis is six‑year‑old Ava Begley, whose parents said they feel “deeply grateful” for the discovery, which finally explains her symptoms after years without answers.
So far, researchers have identified 84 children and young people worldwide with the condition, but experts estimate that thousands more remain undiagnosed, and that millions globally could be carriers of the faulty gene.
The discovery builds on the team’s earlier work showing the crucial role of RNU genes in brain development and function, marking the second major advance in this field within a year.
Scientists made the discovery by analysing changes in several hundred RNU genes using data from the 100,000 Genomes Project, a landmark initiative led by Genomics England to understand how genetic variations influence health and disease.
RNU2‑2, the gene newly linked to epilepsy, plays a role in how the brain processes certain proteins. A recessive fault in this gene disrupts normal neurological development and triggers the severe symptoms seen in affected children.
Children with the disorder experience early‑onset seizures – sudden bursts of electrical activity in the brain that can cause:
- Stiffness
- Jerking or shaking
- Loss of consciousness
- Frequent, uncontrolled episodes
These seizures are often resistant to medication, highlighting the urgent need for new, targeted therapies.
Dr Adam Jackson, Academic Clinical Fellow at the Manchester Centre for Genomic Medicine, said:
“We believe that as many as in 1 in 100 people could unknowingly be carriers of this condition. If both parents are carriers, there is a 1 in 4 chance with every pregnancy that their child could be affected. We estimate roughly 1 in 40,000 people may be living with this condition, making it one of the most common neurodevelopmental disorders currently known. Our discovery brings hope for many patients and families who have been searching for answers and is already having a positive impact around the world.”
Beyond seizures, the condition has a profound impact on development. Many children do not achieve key milestones such as walking or talking, have significant or severe learning difficulties, and require substantial, lifelong care and support.
For families like Ava’s, the diagnosis brings clarity after years of uncertainty. Knowing the underlying cause opens doors to better support, tailored treatment, and global networks of families facing the same rare condition. While there is currently no cure for the condition, identifying its genetic cause is the essential first step toward:
- Diagnostic tests
- Earlier intervention
- Better‑targeted treatments
- Future development of gene‑specific therapies
With thousands of children likely affected worldwide, and millions potentially carrying the gene, Manchester’s discovery represents one of the most significant advances in childhood epilepsy research in decades.
The team will now continue their work to develop improved diagnostics, support families and clinicians, and explore new treatment pathways.
Image credit: iStock
