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
Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.
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.
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.