Publications by authors named "Dong-Yuan Qin"
Front Pediatr
October 2024
Article Synopsis
- The text discusses an autosomal recessive disorder related to epilepsy caused by mutations in the WW-containing oxidoreductase gene, leading to severe seizures and developmental issues in infants.
- A case study of a 5-month-old boy showcases intractable seizures, developmental delays, and a newly identified mutation that was inherited from his healthy parents.
- The findings highlight the importance of discovering new gene variants, which could improve the understanding and treatment options for related disorders.
