- All
- STXBP1
- SYNGAP1
Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders.
Pierce SR, Orlando JM, Cunningham KG, Ruggiero SM, Kaufman MC, Mckee JL, Helbig I.
Dev Med Child Neurol. 2026 Apr 10. doi: 10.1111/dmcn.70265. Online ahead of print. PMID: 41964267
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. 2025 Oct 29:2025.10.28.685100. doi: 10.1101/2025.10.28.685100. PMID: 41279390. [Preprint]
Quantitative EEG Biomarkers in the Genetic Epilepsies and Associations With Neurologic Outcomes.
Galer PD, McKee JL, Ruggiero SM, Kaufman MC, Ojemann WKS, McSalley I, Ganesan S, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC.
Neurology. 2025 Oct 21;105(8):e214148. doi: 10.1212/WNL.0000000000214148. PMID: 40986432. Epub 2025 Sep 23.
Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy.
Harrison AG, Magielski JH, McSalley I, Ganesan S, Prentice AJ, Cunningham KG, Pierce SR, Boland MJ, Prosser BL, Helbig I, McKee JL.
Epilepsia. 2025 Sep;66(9):3505-3515. doi: 10.1111/epi.18469. PMID: 40407699.
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 Mar 19:101419. doi: 10.1016/j.gim.2025.101419. PMID: 40119723.
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.
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.
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.
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.
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).
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