Genetic & Genomic MedicineEpilepsia OpenPeer-reviewed
A disease concept model for STXBP1-related disorders
Katie Rose Sullivan, Sarah McKeown Ruggiero, Julie Xian…·Ingo Helbig
This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.
32 citationstop 3%