STXBP1: fast-forward to a brighter future – a patient organization perspective.
Goss JR, Prosser BL, Helbig I, Son Rigby C.
Ther Adv Rare Dis. 2024 Jun 18;5:26330040241257221. doi: 10.1177/26330040241257221. PMID: 38898886. eCollection 2024 Jan-Dec.
Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders.
Marotta N, Boland MJ, Prosser BL.
Probl Pediatr Adolesc Health Care. 2024 Mar 11:101576. doi: 10.1016/j.cppeds.2024.101576. PMID: 38472035. [Epub ahead of print]
Early life seizures and epileptic spasms in STXBP1 -related disorders.
Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I.
Epilepsia. 2024 Mar;65(3):805-816. PMID: 38279907. doi: 10.1111/epi.17886. Epub 2024 Jan 27.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Son Rigby C, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I.
Brain. December 2023 1;146(12):5182–5197. PMID: 38015929. doi: 10.1093/brain/awad287.