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Your search keyword '"Koeleman, B. P. C."' showing total 14 results
Start Over Author "Koeleman, B. P. C." Publisher wiley
14 results on '"Koeleman, B. P. C."'

1. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

Author

Wolking, S., Moreau, C., Mccormack, M., Krause, R., Krenn, M., Berkovic, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Petrovski, S., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Zimprich, F., Sisodiya, S. M., Girard, S. L., Cossette, P., Avbersek, A., Leu, C., Heggeli, K., Demurtas, R., Willis, J., Speed, D., Sargsyan, N., Chinthapalli, K., Borghei, M., Coppola, A., Gambardella, A., Becker, F., Rau, S., Hengsbach, C., Weber, Y. G., Berghuis, B., Campbell, E., Gudmundsson, L. J., Ingason, A., Stefansson, K., Schneider, R., Balling, R., Auce, P., Francis, B., Jorgensen, A., Morris, A., Langley, S., Srivastava, P., Brodie, M., Todaro, M., Hutton, J., Muhle, H., Klein, K. M., Moller, R. S., Nikanorova, M., Weckhuysen, S., Rener-Primec, Z., Craig, J., and Stefansson, H.

Subjects
0301 basic medicine, Male, Candidate gene, Drug Resistant Epilepsy, Neurology [D14] [Human health sciences], Neurosciences. Biological psychiatry. Neuropsychiatry, Drug resistance, Bioinformatics, Polymorphism, Single Nucleotide, Whole Exome Sequencing, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Polymorphism, RC346-429, Gene, Exome sequencing, Research Articles, Genetic Association Studies, Neurologie [D14] [Sciences de la santé humaine], business.industry, General Neuroscience, Genetic variants, Genetic Variation, Single Nucleotide, medicine.disease, DEPDC5, Female, 030104 developmental biology, Cohort, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, RC321-571, Research Article
Abstract

Annals of Clinical and Translational Neurology 8(7), 1376-1387 (2021). doi:10.1002/acn3.51374, Published by Wiley, Chichester [u.a.]

Published
2021

7. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis

Author

Thomson, G., primary, Valdes, A. M., additional, Noble, J. A., additional, Kockum, I., additional, Grote, M. N., additional, Najman, J., additional, Erlich, H. A., additional, Cucca, F., additional, Pugliese, A., additional, Steenkiste, A., additional, Dorman, J. S., additional, Caillat-Zucman, S., additional, Hermann, R., additional, Ilonen, J., additional, Lambert, A. P., additional, Bingley, P. J., additional, Gillespie, K. M., additional, Lernmark, Å., additional, Sanjeevi, C. B., additional, Rønningen, K. S., additional, Undlien, D. E., additional, Thorsby, E., additional, Petrone, A., additional, Buzzetti, R., additional, Koeleman, B. P. C., additional, Roep, B. O., additional, Saruhan-Direskeneli, G., additional, Uyar, F. A., additional, Günoz, H., additional, Gorodezky, C., additional, Alaez, C., additional, Boehm, B. O., additional, Mlynarski, W., additional, Ikegami, H., additional, Berrino, M., additional, Fasano, M. E., additional, Dametto, E., additional, Israel, S., additional, Brautbar, C., additional, Santiago-Cortes, A., additional, Frazer de Llado, T., additional, She, J.-X., additional, Bugawan, T. L., additional, Rotter, J. I., additional, Raffel, L., additional, Zeidler, A., additional, Leyva-Cobian, F., additional, Hawkins, B. R., additional, Chan, S. H., additional, Castano, L., additional, Pociot, F., additional, and Nerup, J., additional

Published
2007
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13. Integrated genetic map of human chromosome 2

Author

COX, S., primary, BRYANT, S. P., additional, COLLINS, A., additional, WEISSENBACH, J., additional, DONIS-KELLER, H., additional, KOELEMAN, B. P. C., additional, STEINKASSERER, A., additional, and SPURR, N. K., additional

Published
1995
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14. Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors.

Author

Stevelink R, Koeleman BPC, Sander JW, Jansen FE, and Braun KPJ

Subjects
Anticonvulsants therapeutic use, Humans, Myoclonic Epilepsy, Juvenile drug therapy, Myoclonic Epilepsy, Juvenile etiology, Prevalence, Prognosis, Risk Factors, Myoclonic Epilepsy, Juvenile epidemiology
Abstract

Background and Purpose: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome for which treatment response is generally assumed to be good. We aimed to determine the prevalence and prognostic risk factors for refractoriness of JME., Methods: We systematically searched PubMed and EMBASE and included 43 eligible studies, reporting seizure outcome after antiepileptic drug (AED) treatment in JME cohorts. We defined refractory JME as persistence of any seizure despite AED treatment and performed a random-effects meta-analysis to assess the prevalence of refractory JME and of seizure recurrence after AED withdrawal in individuals with well-controlled seizures. Studies reporting potential prognostic risk factors in relation to seizure outcome were included for subsequent meta-analysis of risk factors for refractoriness., Results: Overall, 35% (95% confidence interval, 29-41%) of individuals (n = 3311) were refractory. There was marked heterogeneity between studies. Seizures recurred in 78% (95% confidence interval, 52-94%) of individuals who attempted to withdraw from treatment after a period of seizure freedom (n = 246). Seizure outcome by publication year suggested that prognosis did not improve over time. Meta-analysis suggested six variables as prognostic factors for refractoriness, i.e. having three seizure types, absence seizures, psychiatric comorbidities, earlier age at seizure onset, history of childhood absence epilepsy and praxis-induced seizures., Conclusion: One-third of people with JME were refractory, which is a higher prevalence than expected. Risk factors were identified and can be used to guide treatment and counselling of people with JME., (© 2018 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2019
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