Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy - PubMed
8 hours ago
- #RNU2-2
- #neurodevelopmental disorder
- #epileptic encephalopathy
- Biallelic variants in RNU2-2 cause a frequent developmental and epileptic encephalopathy.
- These variants are associated with reduced U2-2 abundance and are distinct from dominant RNU2-2 disorders.
- The condition is characterized by a decreased U2-2 to U2-1 ratio, serving as a diagnostic biomarker.
- RNU2-2 syndrome is identified as the most common recessive neurodevelopmental disorder despite the gene's small size.