Publications Categories: Neurodevelopmental Disorders

CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for SYNGAP1-related intellectual disability. Sichlinger L, Reilly MB, Arora S, Zhang S, Marotta N, Rodríguez-Acevedo KL, Hooks M, Czarnecki KS, Winter JJ, Waxman EA, Dungan LV, Hong I, Araki Y, Johnson R, Huganir RL, Pavani G, French DL, Davidson BL, Prosser BL, Heller EA. bioRxiv [Preprint]. 2025 […]

Clinical signatures of SYNGAP1-related disorders through data integration. McKee JL, Magielski JH, Xian J, Cohen S, Toib J, Harrison A, Chen C, Kim D, Rathod A, Brimble E, Fitter N, Graglia JM, Helde KA, McKeown Ruggiero S, Boland MJ, Prosser BL, Sederman R, Helbig I. Genet Med. 2025 Jun;27(6):101419. https://doi.org/10.1016/j.gim.2025.101419. PMID: 40119723. PMCID: PMC12419475.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder. Felix AJ, Brown, BL, Marotta N, Gessner, MJ, Houserova, M, Huerta-Ocampo I, Wilson T, Randell R, Dawicki-McKenna JM, Reinhardt D, Uchida K, McSalley I, McKee JL, Helbig I, Boland MJ, Davidson BL, Prosser BL. bioRxiv. 2024 August 22 (updated 2025 November 8). doi:10.1101/2024.08.22.609238v3.

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. Review.

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. 2023 Dec 1;146(12):5182-5197. PMID: 38015929. doi: 10.1093/brain/awad287.

Assessing the landscape of STXBP1-related disorders in 534 individuals. Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O’Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla […]