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Genomic and clinical predictors of lacosamide response in refractory epilepsies.

Epilepsia open

Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Stefansson H, Striano P, Zara F, Depondt C, Sisodiya S, Goldstein D, Lerche H, Cavalleri GL, Delanty N.
PMID: 31819912
Epilepsia Open. 2019 Sep 25;4(4):563-571. doi: 10.1002/epi4.12360. eCollection 2019 Dec.

OBJECTIVE: Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting.METHODS: We tested the association of clinical predictors with treatment response using regression modeling in...

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Heavin SB, McCormack M, Wolking S, et al. Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia Open. 2019;4(4):563-571doi: 10.1002/epi4.12360.
Heavin, S. B., McCormack, M., Wolking, S., Slattery, L., Walley, N., Avbersek, A., Novy, J., Sinha, S. R., Radtke, R., Doherty, C., Auce, P., Craig, J., Johnson, M. R., Koeleman, B. P. C., Krause, R., Kunz, W. S., Marson, A. G., O'Brien, T. J., Sander, J. W., Sills, G. J., Stefansson, H., Striano, P., Zara, F., Depondt, C., Sisodiya, S., Goldstein, D., Lerche, H., Cavalleri, G. L., & Delanty, N. (2019). Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia open, 4(4), 563-571. https://doi.org/10.1002/epi4.12360
Heavin, Sinéad B, et al. "Genomic and clinical predictors of lacosamide response in refractory epilepsies." Epilepsia open vol. 4,4 (2019): 563-571. doi: https://doi.org/10.1002/epi4.12360
Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Stefansson H, Striano P, Zara F, Depondt C, Sisodiya S, Goldstein D, Lerche H, Cavalleri GL, Delanty N. Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia Open. 2019 Sep 25;4(4):563-571. doi: 10.1002/epi4.12360. eCollection 2019 Dec. PMID: 31819912; PMCID: PMC6885661.
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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Brain : a journal of neurology

Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D.
PMID: 32568404
Brain. 2020 Jul 01;143(7):2106-2118. doi: 10.1093/brain/awaa171.

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on...

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Niestroj LM, Perez-Palma E, Howrigan DP, et al. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020;143(7):2106-2118doi: 10.1093/brain/awaa171.
Niestroj, L. M., Perez-Palma, E., Howrigan, D. P., Zhou, Y., Cheng, F., Saarentaus, E., Nürnberg, P., Stevelink, R., Daly, M. J., Palotie, A., Lal, D. (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain : a journal of neurology, 143(7), 2106-2118. https://doi.org/10.1093/brain/awaa171
Niestroj, Lisa-Marie, et al. "Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects." Brain : a journal of neurology vol. 143,7 (2020): 2106-2118. doi: https://doi.org/10.1093/brain/awaa171
Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020 Jul 01;143(7):2106-2118. doi: 10.1093/brain/awaa171. PMID: 32568404; PMCID: PMC7364765.
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Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.

Epilepsia open

Silvennoinen K, de Lange N, Zagaglia S, Balestrini S, Androsova G, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, van der Palen J, Krause R, Depondt C, Sisodiya SM.
PMID: 31440723
Epilepsia Open. 2019 Jul 04;4(3):420-430. doi: 10.1002/epi4.12349. eCollection 2019 Sep.

OBJECTIVE: To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME).METHODS: People with JME were identified from a large database of individuals with epilepsy, which includes detailed retrospective information on AED use....

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Silvennoinen K, de Lange N, Zagaglia S, et al. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 2019;4(3):420-430doi: 10.1002/epi4.12349.
Silvennoinen, K., de Lange, N., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Sander, J. W., Sills, G. J., Striano, P., Zara, F., van der Palen, J., Krause, R., Depondt, C., Sisodiya, S. M. (2019). Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia open, 4(3), 420-430. https://doi.org/10.1002/epi4.12349
Silvennoinen, Katri, et al. "Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy." Epilepsia open vol. 4,3 (2019): 420-430. doi: https://doi.org/10.1002/epi4.12349
Silvennoinen K, de Lange N, Zagaglia S, Balestrini S, Androsova G, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, van der Palen J, Krause R, Depondt C, Sisodiya SM. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 2019 Jul 04;4(3):420-430. doi: 10.1002/epi4.12349. eCollection 2019 Sep. PMID: 31440723; PMCID: PMC6698679.
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Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.

Molecular genetics and metabolism reports

Stevelink R, Pangilinan F, Jansen FE, Braun KPJ, Molloy AM, Brody LC, Koeleman BPC.
PMID: 31641590
Mol Genet Metab Rep. 2019 Oct 11;21:100518. doi: 10.1016/j.ymgmr.2019.100518. eCollection 2019 Dec.

Altered vitamin B6 metabolism due to pathogenic variants in the gene

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Stevelink R, Pangilinan F, Jansen FE, et al. Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy. Mol Genet Metab Rep. 2019;21:100518doi: 10.1016/j.ymgmr.2019.100518.
Stevelink, R., Pangilinan, F., Jansen, F. E., Braun, K. P. J., Molloy, A. M., Brody, L. C., & Koeleman, B. P. C. (2019). Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy. Molecular genetics and metabolism reports, 21100518. https://doi.org/10.1016/j.ymgmr.2019.100518
Stevelink, Remi, et al. "Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy." Molecular genetics and metabolism reports vol. 21 (2019): 100518. doi: https://doi.org/10.1016/j.ymgmr.2019.100518
Stevelink R, Pangilinan F, Jansen FE, Braun KPJ, Molloy AM, Brody LC, Koeleman BPC. Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy. Mol Genet Metab Rep. 2019 Oct 11;21:100518. doi: 10.1016/j.ymgmr.2019.100518. eCollection 2019 Dec. PMID: 31641590; PMCID: PMC6796782.
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Showing 1 to 4 of 4 entries