Science Spotlight: Three teams converge on RNU2‑2 as targetable for neurodevelopmental epilepsies

Three groups, using overlapping international cohorts and shared datasets, recently reported in Nature Genetics that variants in the non‑coding RNA RNU2‑2 — previously implicated in a dominant neurodevelopmental epilepsy syndrome through recurrent de novo heterozygous variants — also underlie a highly prevalent recessive childhood neurodevelopmental disorder with epilepsy.

A more complete picture of the genetic epileptic disorders linked to RNU2-2 variants defines a more complete set of patients who could benefit from future therapies aimed at restoring RNU2-2 function...