As reported by the National Health Executive, scientists have identified a newly recognised genetic condition linked to severe early-onset epilepsy and developmental delay, in a discovery that could help improve diagnosis and future treatment options
Researchers from Manchester University NHS Foundation Trust and The University of Manchester, working through the NIHR Manchester Biomedical Research Centre, have defined a disorder now known as Recessive RNU2-2 related neurodevelopmental disorder. Their findings have been published in the journal Nature Genetics.
The condition is characterised by severe seizures that are often difficult to control, alongside profound developmental delays. Symptoms typically emerge within the first year of life, placing significant strain on affected children and their families from an early stage.
Clinicians note that the seizures associated with the disorder are frequently resistant to standard anti-epileptic medications, underscoring the need for new and more targeted treatment approaches.
At the centre of the discovery is the gene RNU2-2, which plays a role in how the brain processes certain proteins. When both copies of this gene carry a fault — a recessive mutation — normal brain development is disrupted, leading to the neurological symptoms seen in patients.
Children with the condition experience early-onset epileptic seizures, which can involve sudden bursts of electrical activity in the brain. These episodes may cause jerking or shaking movements, muscle stiffness, repeated uncontrolled seizures, and, in some cases, loss of consciousness.
To date, researchers have identified 84 children and young people worldwide with the disorder. However, experts believe the true number is likely much higher, with thousands of cases yet to be diagnosed and millions of people potentially carrying the genetic variant without knowing it.
