‘You constantly have to be switched on’: A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands
Orphanet J Rare Dis. 2025 Feb 27;20(1):89. doi: 10.1186/s13023-024-03314-7. ABSTRACT BACKGROUND: Disorder-related variants in the STXBP1 gene are increasingly detected in children with severe developmental …