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Martin, B. E., Sands, T., Bier, L., Bergner, A., Boehme, A. K., & Lippa, N. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics, 61(7), 645–651. https://doi.org/10.1136/jmg-2023-109450

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Hébert, J., De Santis, R. J., Daniyal, L., Mannan, S., Ng, E., Thain, E., Sanabria-Salas, M. C., Kim, R. H., Bril, V., & Reid, A. Y. (2024). Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults. Epilepsy Research, 202, 107336. https://doi.org/10.1016/j.eplepsyres.2024.107336

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Cerulli Irelli, E., Cocchi, E., Mostacci, B., Orlando, B., Gesche, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Catania, C., Pulitano, P., Panzini, C., Ferlazzo, E., Pascarella, A., Casciato, S., Pizzanelli, C., Giuliano, L., Viola, V., Fortunato, F., … Di Gennaro, G. (2024). Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks? Epilepsia, 65(3). Portico. https://doi.org/10.1111/epi.17892

Thalwitzer, K. M., Xian, J., de Campo, D., Parthasarathy, S., Magielski, J., Sullivan, K. R., Goss, J., Rigby, C. S., Boland, M., Prosser, B., Ruggiero, S. M., Syrbe, S., & Helbig, I. (2024). Early life seizures and epileptic spasms in STXBP1‐related disorders. Epilepsia, 65(3), 805–816. Portico. https://doi.org/10.1111/epi.17886

Avila, E. K., Tobochnik, S., Inati, S. K., Koekkoek, J. A. F., McKhann, G. M., Riviello, J. J., Rudà, R., Schiff, D., Tatum, W. O., Templer, J. W., Weller, M., & Wen, P. Y. (2023). Brain tumor-related epilepsy management: A Society for Neuro-oncology (SNO) consensus review on current management. Neuro-Oncology, 26(1), 7–24. https://doi.org/10.1093/neuonc/noad154

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Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983

Yu, H., Kim, W., Park, D. K., Phi, J. H., Lim, B. C., Chae, J., Kim, S., Kim, K. J., Provenzano, F. A., Khodagholy, D., & Gelinas, J. N. (2023). Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy. Epilepsia, 65(1), 190–203. Portico. https://doi.org/10.1111/epi.17810

Cerulli Irelli, E., Cocchi, E., Morano, A., Gesche, J., Caraballo, R. H., Lattanzi, S., Strigaro, G., Catania, C., Ferlazzo, E., Pascarella, A., Casciato, S., Quarato, P., Pizzanelli, C., Pulitano, P., Giuliano, L., Viola, V., Mostacci, B., Fortunato, F., … Marini, C. (2023). Levetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy. JAMA Neurology, 80(11), 1174. https://doi.org/10.1001/jamaneurol.2023.3400

Barbour, K., Tian, N., Yozawitz, E. G., Wolf, S., McGoldrick, P. E., Sands, T. T., Nelson, A., Basma, N., & Grinspan, Z. M. (2023). Creating rare epilepsy cohorts using keyword search in electronic health records. Epilepsia, 64(10), 2738–2749. Portico. https://doi.org/10.1111/epi.17725

Sands, T. T., & Gelinas, J. N. (2024). Epilepsy and Encephalopathy. Pediatric Neurology, 150, 24–31. https://doi.org/10.1016/j.pediatrneurol.2023.09.019

Trujillo, S., Wetmore, J. B., Camarillo, I. A., Misiewicz, S., May, H., Choi, H., Siegel, K., Chung, W. K., Phelan, J. C., Yang, L. H., Leu, C., Bergner, A. L., & Ottman, R. (2023). Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients. Epilepsia, 64(9), 2443–2453. Portico. https://doi.org/10.1111/epi.17701

Choi, H., Wetmore, J. B., Camarillo, I. A., Misiewicz, S., Siegel, K., Chung, W. K., Leu, C.-S., Phelan, J. C., Yang, L. H., & Ottman, R. (2023). Association of antiseizure medication adherence with illness perceptions in adults with epilepsy. Epilepsy & Behavior, 145, 109289. https://doi.org/10.1016/j.yebeh.2023.109289

Hébert, J., Iyengar, Y., Ng, S., Liao, J., Snelgrove, J. W., & Bui, E. (2023). Obstetrical Outcomes of Patients with Epilepsy in a Canadian Tertiary Care Center (2014–2020). Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques, 51(3), 397–403. https://doi.org/10.1017/cjn.2023.254

Cerulli Irelli, E., Cocchi, E., Ramantani, G., Morano, A., Riva, A., Caraballo, R. H., Giuliano, L., Yilmaz, T., Panagiotakaki, E., Operto, F. F., Giraldez, B. G., Balestrini, S., Silvennoinen, K., Casciato, S., Comajuan, M., Fortunato, F., Giallonardo, A. T., Gamirova, R., … Coppola, A. (2023). Sex‐based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia. Epilepsia, 64(6). Portico. https://doi.org/10.1111/epi.17609

Kaur, N., Nowacki, A. S., Lachhwani, D. K., Berl, M. M., Hamberger, M. J., Klaas, P., Bingaman, W., & Busch, R. M. (2023). Characterization and Prediction of Short-term Outcomes in Memory After Temporal Lobe Resection in Children With Epilepsy. Neurology, 100(18). https://doi.org/10.1212/wnl.0000000000207143

Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., … Escayg, A. (2022). ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 146(4), 1357–1372. https://doi.org/10.1093/brain/awac330

Graifman, J. L., Lippa, N. C., Mulhern, M. S., Bergner, A. L., & Sands, T. T. (2023). Clinical utility of exome sequencing in a pediatric epilepsy cohort. Epilepsia, 64(4), 986–997. Portico. https://doi.org/10.1111/epi.17534

Smith, L., Malinowski, J., Ceulemans, S., Peck, K., Walton, N., Sheidley, B. R., & Lippa, N. (2022). Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32(2), 266–280. Portico. https://doi.org/10.1002/jgc4.1646

Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., … Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100(6). https://doi.org/10.1212/wnl.0000000000201492

Munger Clary, H. M., Giambarberi, L., Floyd, W. N., & Hamberger, M. J. (2023). Afraid to go out: Poor quality of life with phobic anxiety in a large cross-sectional adult epilepsy center sample. Epilepsy Research, 190, 107092. https://doi.org/10.1016/j.eplepsyres.2023.107092

Gyamfi-Bannerman, C., Huang, Y., Bateman, B. T., Benson, R. J., Pack, A. M., Wright, J. D., D’Alton, M. E., & Friedman, A. M. (2021). Maternal morbidity and mortality associated with epilepsy. The Journal of Maternal-Fetal & Neonatal Medicine, 35(25), 7917–7923. https://doi.org/10.1080/14767058.2021.1938528

Logue, T. C., Huang, Y., Benson, R. J., Pack, A. M., Wright, J. D., D’Alton, M. E., & Friedman, A. M. (2022). Use of antiepileptic drugs by trimester. The Journal of Maternal-Fetal & Neonatal Medicine, 35(25), 10158–10161. https://doi.org/10.1080/14767058.2022.2122039

Bain, J. M., Snyder, L. G., Helbig, K. L., Cooper, D. D., Chung, W. K., & Goodspeed, K. (2022). Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications. Journal of Neurodevelopmental Disorders, 14(1). https://doi.org/10.1186/s11689-022-09449-7

Platzer, K., Sticht, H., Bupp, C., Ganapathi, M., Pereira, E. M., Le Guyader, G., Bilan, F., Henderson, L. B., Lemke, J. R., Taschenberger, H., Brose, N., Abou Jamra, R., & Wojcik, S. M. (2022). De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of Neurology, 92(6), 958–973. Portico. https://doi.org/10.1002/ana.26485

Choi, H., Elkind, M. S. V., Longstreth, W. T., Boehme, A. K., Hafen, R., Hoyt, E. J., & Thacker, E. L. (2022). Epilepsy, Vascular Risk Factors, and Cognitive Decline in Older Adults. Neurology, 99(21). https://doi.org/10.1212/wnl.0000000000201187

Cumbe, V. F. J., Greene, C., Fumo, A. M. T., Fumo, H., Mabunda, D., Gouveia, L. C., Oquendo, M. A., Duarte, C. S., Sidat, M., & Mari, J. de J. (2022). Community Health Workers’ Knowledge, Attitudes, and Practices towards Epilepsy in Sofala, Central Mozambique. International Journal of Environmental Research and Public Health, 19(22), 15420. https://doi.org/10.3390/ijerph192215420

Kwon, C.-S., Wirrell, E. C., & Jetté, N. (2022). Autism Spectrum Disorder and Epilepsy. Neurologic Clinics, 40(4), 831–847. https://doi.org/10.1016/j.ncl.2022.03.011

Leitner, D. F., Devore, S., Laze, J., Friedman, D., Mills, J. D., Liu, Y., Janitz, M., Anink, J. J., Baayen, J. C., Idema, S., van Vliet, E. A., Diehl, B., Scott, C., Thijs, R., Nei, M., Askenazi, M., Sivathamboo, S., O’Brien, T., Wisniewski, T., … Devinsky, O. (2022). Serotonin receptor expression in hippocampus and temporal cortex of temporal lobe epilepsy patients by postictal generalized electroencephalographic suppression duration. Epilepsia, 63(11), 2925–2936. Portico. https://doi.org/10.1111/epi.17400

Tobochnik, S., Bateman, L. M., Akman, C. I., Anbarasan, D., Bazil, C. W., Bell, M., Choi, H., Feldstein, N. A., Kent, P. F., McBrian, D., McKhann, G. M., Mendiratta, A., Pack, A. M., Sands, T. T., Sheth, S. A., Srinivasan, S., & Schevon, C. A. (2021). Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity. Journal of Clinical Neurophysiology, 39(7), 592–601. https://doi.org/10.1097/wnp.0000000000000833

Castano, V. G., Spotnitz, M., Waldman, G. J., Joiner, E. F., Choi, H., Ostropolets, A., Natarajan, K., McKhann, G. M., Ottman, R., Neugut, A. I., Hripcsak, G., & Youngerman, B. E. (2022). Identification of patients with drug‐resistant epilepsy in electronic medical record data using the Observational Medical Outcomes Partnership Common Data Model. Epilepsia, 63(11), 2981–2993. Portico. https://doi.org/10.1111/epi.17409

Ottman, R., Wetmore, J. B., Camarillo, I. A., Rodriguez, S., Misiewicz, S., Siegel, K., Chung, W. K., Phelan, J. C., Leu, C., Yang, L. H., & Choi, H. (2022). Reproduction and genetic causal attribution of epilepsy. Epilepsia, 63(9), 2392–2402. Portico. https://doi.org/10.1111/epi.17349

Lai, D., Gade, M., Yang, E., Koh, H. Y., Lu, J., Walley, N. M., Buckley, A. F., Sands, T. T., Akman, C. I., Mikati, M. A., McKhann, G. M., Goldman, J. E., Canoll, P., Alexander, A. L., Park, K. L., Von Allmen, G. K., Rodziyevska, O., Bhattacharjee, M. B., Lidov, H. G. W., … Heinzen, E. L. (2022). Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain, 145(8), 2704–2720. https://doi.org/10.1093/brain/awac117

Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130

Oliver, K. L., Ellis, C. A., Scheffer, I. E., Ganesan, S., Leu, C., Sadleir, L. G., Heinzen, E. L., Mefford, H. C., Bass, A. J., Curtis, S. W., Harris, R. V., Whiteman, D. C., Helbig, I., Ottman, R., Epstein, M. P., Bahlo, M., & Berkovic, S. F. (2022). Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine, 81, 104079. https://doi.org/10.1016/j.ebiom.2022.104079

Stanbouly, D., Radley, B., Steinberg, B., & Ascherman, J. A. (2022). What Are the Risk Factors for Epilepsy Among Patients With Craniosynostosis? Journal of Oral and Maxillofacial Surgery, 80(7), 1191–1197. https://doi.org/10.1016/j.joms.2022.02.005

Niyongere, J., Welty, T. E., Bell, M. W., Consalvo, D., Hammond, C., Leung, H., Patsalos, P. N., Ryan, M., Suansanae, T., Zhou, D., & Zuellig, H. (2022). Barriers to generic antiseizure medication use: Results of a global survey by the International League Against Epilepsy Generic Substitution Task Force. Epilepsia Open, 7(2), 260–270. Portico. https://doi.org/10.1002/epi4.12583

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