Selected Publications

McKee JL, Ruggiero SM, Cunningham K, Coyne J, McSalley I, Kaufman MC, Bane B, Chisari T, Toib J, Glatts C, Tefft S, Orlando JM, Padmanabhan V, Gonzalez AK, Harrison A, Woo C, Zbikowski SA, Dhaduk R, Mercurio J, McCarthy M, Magielski JH, Grinspan Z, Abbott M, Knowles J, Chao HT, Xiong K, Berry-Kravis E, Tabarestani S, Graglia JM, Helde K, McNamar V, Son Rigby C, Goss J, Demarest S, Miele A, Prosser B, Boland MJ, Pierce SR, Helbig I.: A prospective natural history study protocol for clinical trial readiness in synaptic disorders. Epilepsia Jul 2026.

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.: Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder. Mol Psychiatry Jul 2026.

Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL Jr, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC.: ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel. Genet Med Jun 2026.

Harrison AG, Magielski JH, McSalley I, Ganesan S, Prentice AJ, Cunningham KG, Pierce SR, Boland MJ, Prosser BL, Helbig I, McKee JL.: Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy. Epilepsia May 2025.

McKee JL, Magielski J, Xian J, Cohen S, Toib J, Harrison A, Chen C, Kim D, Rathod A, Brimble E, Fitter N, Graglia JM, Helde KA, Ruggiero SM, Boland MJ, Prosser BL, Sederman R, Helbig I.: Clinical signatures of SYNGAP1-related disorders through data integration. Genetics in Medicine 27(6), June 2025 Notes: https://doi.org/10.1016/j.gim.2025.101419.

Galer PD, McKee JL, Ruggiero SM, Kaufman MC, Ojemann WKS, McSalley I, Ganesan S, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC.: Quantitative EEG Biomarkers in the Genetic Epilepsies and Associations With Neurologic Outcomes. Neurology 105: e214148, Oct 2025.

McKee JL, Kaufman MC, Gonzalez AK, Fitzgerald MP, Massey SL, Fung F, Kessler SK, Witzman S, Abend NS, Helbig I.: Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study. Lancet Digit Health 5(4): e217-e226, April 2023.

Mondragon E, Magielski JH, Bane B, Nolan J, Ruggiero SM, Armstrong D, Arnold S, Sirsi D, Helbig I, McKee JL.: Clinical trajectories and medication response in TBC1D24-related epilepsies. Epilepsia March 2026.

Magielski J, Cohen S, Kaufman M, Parthasarathy S, Xian J, Brimble E, Fitter N, Furia F, Gardella E, Moller R, Helbig I, and McKee JL.: Deciphering the Natural History of SCN8A-Related Disorders. Neurology 104(9): e213533, May 2025.

Galer, Peter D., Parthasarathy, Shridhar, Xian, Julie, McKee, Jillian L., Ruggiero, Sarah M., Ganesan, Shiva, Lewis-Smith, David, Kaufman, Michael C., Cohen, Stacey R., Haag, Scott, Gonzalez, Alexander K., Wilmarth, Olivia, Ellis, Colin A., Litt, Brian, Helbig, Ingo: Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals. Genetics in Medicine. Elsevier, 26(11), November 2024.