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, Rigby CS, 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. medRxiv Feb 2026.

Molisani SE, Kaufman MC, Tencer J, Fitzgerald M, Witzman S, Gonzalez AK, Ramos M, DiGiovine M, Kessler SK, McDonnell PP, McKee J, Melamed S, Prelack M, Tefft S, Abend NS.: Medication Barriers in Pediatric Patients With Epilepsy. Pediatr Neurol 177: 140-147, Jan 2026.

Pierce SR, Orlando JM, Cunningham KG, Ruggiero SM, McKee JL, Helbig I.: Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with STXBP1 Related Disorders and SYNGAP1 Related Disorders. medRxiv Nov 2025.

Galer PD, McKee JL, Ruggiero SM, Kaufman MC, McSalley I, Ganesan S, Ojemann WKS, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC.: Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes. medrxiv (accepted to Neurology) Oct 2025 Notes: https://doi.org/10.1101/2024.10.09.24315105.

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.

Orlando JM, Bane B, Chisari T, Magielski JH, Pierce SR, Cunningham K, Woo C, Tefft S, Nolan J, Ruggiero S, Boland MJ, McKee JL, Helbig I, Prosser LA.: Quantification of neuromotor control in STXBP1 -Related Disorders with wearable sensors. medRxiv Sep 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.

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 (under review) June 2025.

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.

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.