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.
Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.
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.
Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.
Felix AJ, Brown, BL, Marotta N, Gessner, MJ, Houserova, M, Huert-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.