Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder - Nature

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder  NatureSystematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies  NatureNewly discovered recessive neurodevelopmental disorder may be most prevalent ever  Medical XpressNew hope for children with severe epilepsy after Manchester study  BBCGirl, 6, receives diagnosis for genetic epilepsy in 'landmark breakthrough' | ITV News  ITVX