Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy
Genetic sequencing identified a rare gene variant causing severe epilepsy in children previously labeled as having unsolved genetic conditions.
This PubMed-indexed diagnostic validation study examines Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy. The available abstract reports A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS) Here we describe biallelic RNU2-2 variants causing a recently reported, severe, recessive DEE We screened individuals who have received WGS.
What the study was
- Study design
- Diagnostic validation study
- Population
- Human participants
- Category
- Genomics/Precision Medicine
- Maturity
- Validated
- Journal
- Epilepsia
Why it surfaced
Conservative rapid triage: diagnostic validation study, human evidence, and direct relevance to Precision oncology and genomic medicine.
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