A disease concept model for STXBP1-related disorders
Katie Rose Sullivan, Sarah McKeown Ruggiero, Julie Xian, Kim Marie Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James R. Goss, Anna C. Pfalzer, Kyle J. Horning, Nicole C. Weitzel, Sydney Corey, Laura J. Conway, Charlene Son Rigby, , 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.
Epilepsia Open · Jan 10, 2023Peer-reviewedGenetic & Genomic Medicine