检索结果 - Ellis, Colin A.

Authors’ Reply to Drs Bourque and Breiner, Re: Cerebrospinal Fluid in Posterior Reversible Encephalopathy Syndrome 由 Ellis, Colin A., Balu, Ramani

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Early-onset genetic epilepsies reaching adult clinics 由 Lewis-Smith, David, Ellis, Colin A, Helbig, Ingo, Thomas, Rhys H

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The “Maternal Effect” on Epilepsy Risk: Analysis of Familial Epilepsies and Reassessment of Prior Evidence 由 Ellis, Colin A., Berkovic, Samuel F., Epstein, Michael P., Ottman, Ruth

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Generalized, Focal, and Combined Epilepsies in Families: New Evidence for Distinct Genetic Factors 由 Ellis, Colin A., Ottman, Ruth, Epstein, Michael P., Berkovic, Samuel F.

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Epilepsy risk in offspring of affected parents; a cohort study of the “maternal effect” in epilepsy 由 Dreier, Julie W., Ellis, Colin A., Berkovic, Samuel F., Cotsapas, Chris, Ottman, Ruth, Christensen, Jakob

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Unilateral thalamic lesion mimicking genetic generalized epilepsy 由 Kulick-Soper, Catherine V., Stein, Joel M., Chen, Isaac H., Ellis, Colin A., Davis, Kathryn A.

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Seizure Detection in Continuous Inpatient EEG: A Comparison of Human vs Automated Review 由 Ganguly, Taneeta Mindy, Ellis, Colin A., Tu, Danni, Shinohara, Russell T., Davis, Kathryn A., Litt, Brian, Pathmanathan, Jay

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Epilepsy in Families: Age at onset is a familial trait, independent of syndrome 由 Ellis, Colin A., Churilov, Leonid, Epstein, Michael P., Xie, Sharon X., Bellows, Susannah T., Ottman, Ruth, Berkovic, Samuel F.

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Cerebrospinal Fluid in Posterior Reversible Encephalopathy Syndrome: Implications of Elevated Protein and Pleocytosis 由 Ellis, Colin A., McClelland, Andrew C., Mohan, Suyash, Kuo, Emory, Kasner, Scott E., Zhang, Cen, Khankhanian, Pouya, Balu, Ramani

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation 由 Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation 由 Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable 由 Lewis-Smith, David, Galer, Peter D., Balagura, Ganna, Kearney, Hugh, Ganesan, Shiva, Cosico, Mahgenn, O’Brien, Margaret, Vaidiswaran, Priya, Krause, Roland, Ellis, Colin A., Thomas, Rhys H., Robinson, Peter N., Helbig, Ingo

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Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data 由 Lewis-Smith, David, Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Khankhanian, Pouya, Kaufman, Michael C., Gonzalez, Alexander K., Felmeister, Alex S., Krause, Roland, Ellis, Colin A., Helbig, Ingo

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Using Generalized Polyspike Train to Predict Drug-Resistant Idiopathic Generalized Epilepsy 由 Conrad, Erin C., Chugh, Nanak, Ganguly, Taneeta M., Gugger, James J., Tizazu, Etsegenet F., Shinohara, Russell T., Raghupathi, Ramya, Becker, Danielle A., Gelfand, Michael A., Omole, Armina T., Decker, Barbara M., Pathmanathan, Jay S., Davis, Kathryn A., Ellis, Colin A.

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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders 由 Crawford, Katherine, Xian, Julie, Helbig, Katherine L., Galer, Peter D., Parthasarathy, Shridhar, Lewis-Smith, David, Kaufman, Michael C., Fitch, Eryn, Ganesan, Shiva, O’Brien, Margaret, Codoni, Veronica, Ellis, Colin A., Conway, Laura J., Taylor, Deanne, Krause, Roland, Helbig, Ingo

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies 由 Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery 由 Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy 由 Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G.

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Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing 由 Xie, Kevin, Gallagher, Ryan S, Conrad, Erin C, Garrick, Chadric O, Baldassano, Steven N, Bernabei, John M, Galer, Peter D, Ghosn, Nina J, Greenblatt, Adam S, Jennings, Tara, Kornspun, Alana, Kulick-Soper, Catherine V, Panchal, Jal M, Pattnaik, Akash R, Scheid, Brittany H, Wei, Danmeng, Weitzman, Micah, Muthukrishnan, Ramya, Kim, Joongwon, Litt, Brian, Ellis, Colin A, Roth, Dan

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Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood 由 Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah

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