- All
- STXBP1
- SYNGAP1
Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.
Galer PD, McKee JL, Ruggiero SM, Kaufman MC, McSalley I, Ganesan S, Ojemann WKS, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC.
medRxiv. 2024 Oct 10:2024.10.09.24315105. doi: 10.1101/2024.10.09.24315105. PMID: 39417111. Free PMC article.
Clinical signatures of SYNGAP1-related disorders through data integration.
McKee JL, Magielski J, Xian J, Cohen S, Toib J, Chen C, Kim D, Rathod A, Brimble E, Fitter N, J. Graglia M, Helde K, Boland MJ, Ruggiero SM, Sederman R, Helbig I.
medRxiv. 2024 October 04. doi: https://doi.org/10.1101/2024.10.02.24314452.
Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disorders.
Felix AJ, Wilson T, Randell R, Marotta N, Uchida K, Boland MJ, Davidson BL, Prosser BL.
bioRxiv. 2024 August 22. doi:10.1101/2024.08.22.609238.
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]
Reproducible Differentiation of Human Pluripotent Stem Cells into Two-Dimensional Cortical Neuron Cultures with Checkpoints for Success.
Waxman, Elisa A, Dungen, Lea V, DeFlitch Leah M, Merchant, Julie P, Gagne, Alyssa L, Goldberg, Ethan M, French, Deborah L.
Curr Protoc. 2023 Dec;3(12):e948. doi: 10.1002/cpz1.948. PMID: 38148714 (available on 2024-12-01).
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.
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.
Dawicki-McKenna JM, Felix AJ, Waxman EA, Cheng C, Amado DA, Ranum PT, Bogush A, Dungan LV, Maguire JA, Gagne AL, Heller EA, French DL, Davidson BL, Prosser BL.
Nat Commun. 2023 May 6;14(1):2628. doi: 10.1038/s41467-023-38273-3. PMID: 37149717
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 Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I.
Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816
Base editing the synapse: Modeling a complex neurological disorder in non-human primates.
Prosser BL, Helbig I.
Mol Ther. 2022 Jun 1;30(6):2114-2116. doi: 10.1016/j.ymthe.2022.05.009. Epub 2022 May 24. PMID: 35613622