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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Molecular genetics & genomic medicine

de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S, Koeleman BP.
PMID: 27652284
Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep.

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.METHODS: To increase the number...

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de Kovel CG, Brilstra EH, van Kempen MJ, et al. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med. 2016;4(5):568-80doi: 10.1002/mgg3.235.
de Kovel, C. G., Brilstra, E. H., van Kempen, M. J., Van't Slot, R., Nijman, I. J., Afawi, Z., De Jonghe, P., Djémié, T., Guerrini, R., Hardies, K., Helbig, I., Hendrickx, R., Kanaan, M., Kramer, U., Lehesjoki, A. E., Lemke, J. R., Marini, C., Mei, D., Møller, R. S., Pendziwiat, M., Stamberger, H., Suls, A., Weckhuysen, S., & Koeleman, B. P. (2016). Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Molecular genetics & genomic medicine, 4(5), 568-80. https://doi.org/10.1002/mgg3.235
de Kovel, Carolien G F, et al. "Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients." Molecular genetics & genomic medicine vol. 4,5 (2016): 568-80. doi: https://doi.org/10.1002/mgg3.235
de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S, Koeleman BP. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep. PMID: 27652284; PMCID: PMC5023942.
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Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP.
PMID: 26297079
Neurotherapeutics. 2016 Jan;13(1):238. doi: 10.1007/s13311-015-0386-2.

No abstract available.

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Boerma RS, Braun KP, van den Broek MP, et al. Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics. 2016;13(1):238doi: 10.1007/s13311-015-0386-2.
Boerma, R. S., Braun, K. P., van den Broek, M. P., van Berkestijn, F. M., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H., & Koeleman, B. P. (2016). Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 13(1), 238. https://doi.org/10.1007/s13311-015-0386-2
Boerma, Ragna S, et al. "Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 13,1 (2016): 238. doi: https://doi.org/10.1007/s13311-015-0386-2
Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP. Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Neurotherapeutics. 2016 Jan;13(1):238. doi: 10.1007/s13311-015-0386-2. PMID: 26297079; PMCID: PMC4720669.
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Dispersion of PAH and heavy metals along motorways in The Netherlands--an overview.

The Science of the total environment

Koeleman M, vd Laak WJ, Ietswaart H.
PMID: 10535129
Sci Total Environ. 1999 Sep 01;235(1):347-9. doi: 10.1016/s0048-9697(99)00253-3.

In the past years the Road and Hydraulic Engineering Division (DWW) of the Dutch Directorate-General of Public Works and Water Management has supervised research after the pollution of the vicinity of motorways in the Netherlands with micropollutants such as...

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Koeleman M, vd Laak WJ, Ietswaart H. Dispersion of PAH and heavy metals along motorways in The Netherlands--an overview. Sci Total Environ. 1999;235(1):347-9doi: 10.1016/s0048-9697(99)00253-3.
Koeleman, M., vd Laak WJ, & Ietswaart, H. (1999). Dispersion of PAH and heavy metals along motorways in The Netherlands--an overview. The Science of the total environment, 235(1), 347-9. https://doi.org/10.1016/s0048-9697(99)00253-3
Koeleman, et al. "Dispersion of PAH and heavy metals along motorways in The Netherlands--an overview." The Science of the total environment vol. 235,1 (1999): 347-9. doi: https://doi.org/10.1016/s0048-9697(99)00253-3
Koeleman M, vd Laak WJ, Ietswaart H. Dispersion of PAH and heavy metals along motorways in The Netherlands--an overview. Sci Total Environ. 1999 Sep 01;235(1):347-9. doi: 10.1016/s0048-9697(99)00253-3. PMID: 10535129.
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Nanopore tomography of a laser focus.

Nano letters

Keyser UF, Krapf D, Koeleman BN, Smeets RM, Dekker NH, Dekker C.
PMID: 16277463
Nano Lett. 2005 Nov;5(11):2253-6. doi: 10.1021/nl051597p.

We demonstrate that the ionic current through a solid-state nanopore can be used to measure at single nanometer resolution the three-dimensional intensity profile of a laser directly in the focus of a microscope objective. We find a linear dependence...

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Keyser UF, Krapf D, Koeleman BN, et al. Nanopore tomography of a laser focus. Nano Lett. 2005;5(11):2253-6doi: 10.1021/nl051597p.
Keyser, U. F., Krapf, D., Koeleman, B. N., Smeets, R. M., Dekker, N. H., & Dekker, C. (2005). Nanopore tomography of a laser focus. Nano letters, 5(11), 2253-6. https://doi.org/10.1021/nl051597p
Keyser, Ulrich F, et al. "Nanopore tomography of a laser focus." Nano letters vol. 5,11 (2005): 2253-6. doi: https://doi.org/10.1021/nl051597p
Keyser UF, Krapf D, Koeleman BN, Smeets RM, Dekker NH, Dekker C. Nanopore tomography of a laser focus. Nano Lett. 2005 Nov;5(11):2253-6. doi: 10.1021/nl051597p. PMID: 16277463.
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Information on adsorbate positions from low-energy recoil scattering: Adsorption of hydrogen on Pt.

Physical review letters

Boers AL, de Zwart ST, Koeleman BJ, Poelsema B, Verheij LK.
PMID: 10032583
Phys Rev Lett. 1986 Mar 17;56(11):1152-1155. doi: 10.1103/PhysRevLett.56.1152.

No abstract available.

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Boers AL, de Zwart ST, Koeleman BJ, et al. Information on adsorbate positions from low-energy recoil scattering: Adsorption of hydrogen on Pt. Phys Rev Lett. 1986;56(11):1152-1155doi: 10.1103/PhysRevLett.56.1152.
Boers, A. L., de Zwart ST, Koeleman, B. J., Poelsema, B., & Verheij, L. K. (1986). Information on adsorbate positions from low-energy recoil scattering: Adsorption of hydrogen on Pt. Physical review letters, 56(11), 1152-1155. https://doi.org/10.1103/PhysRevLett.56.1152
Boers, et al. "Information on adsorbate positions from low-energy recoil scattering: Adsorption of hydrogen on Pt." Physical review letters vol. 56,11 (1986): 1152-1155. doi: https://doi.org/10.1103/PhysRevLett.56.1152
Boers AL, de Zwart ST, Koeleman BJ, Poelsema B, Verheij LK. Information on adsorbate positions from low-energy recoil scattering: Adsorption of hydrogen on Pt. Phys Rev Lett. 1986 Mar 17;56(11):1152-1155. doi: 10.1103/PhysRevLett.56.1152. PMID: 10032583.
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Systemic adverse events in imiquimod use for cervical intraepithelial neoplasia - A case series.

Case reports in women's health

Wouters T, Hendriks N, Koeneman M, Kruse AJ, van de Sande A, van Beekhuizen HJ, Gerestein KG, Bekkers RLM, Piek JMJ.
PMID: 30906696
Case Rep Womens Health. 2019 Mar 06;21:e00105. doi: 10.1016/j.crwh.2019.e00105. eCollection 2019 Jan.

Treatment for cervical intraepithelial neoplasia (CIN) often consists of an excisional procedure. However, less invasive treatment methods have been explored, such as topical treatment with imiquimod cream. Imiquimod has been proven to be effective in the regression of vulvar...

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Wouters T, Hendriks N, Koeneman M, et al. Systemic adverse events in imiquimod use for cervical intraepithelial neoplasia - A case series. Case Rep Womens Health. 2019;21:e00105doi: 10.1016/j.crwh.2019.e00105.
Wouters, T., Hendriks, N., Koeneman, M., Kruse, A. J., van de Sande, A., van Beekhuizen, H. J., Gerestein, K. G., Bekkers, R. L. M., & Piek, J. M. J. (2019). Systemic adverse events in imiquimod use for cervical intraepithelial neoplasia - A case series. Case reports in women's health, 21e00105. https://doi.org/10.1016/j.crwh.2019.e00105
Wouters, Tirza, et al. "Systemic adverse events in imiquimod use for cervical intraepithelial neoplasia - A case series." Case reports in women's health vol. 21 (2019): e00105. doi: https://doi.org/10.1016/j.crwh.2019.e00105
Wouters T, Hendriks N, Koeneman M, Kruse AJ, van de Sande A, van Beekhuizen HJ, Gerestein KG, Bekkers RLM, Piek JMJ. Systemic adverse events in imiquimod use for cervical intraepithelial neoplasia - A case series. Case Rep Womens Health. 2019 Mar 06;21:e00105. doi: 10.1016/j.crwh.2019.e00105. eCollection 2019 Jan. PMID: 30906696; PMCID: PMC6411488.
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Decoding the Human Immunoglobulin G-Glycan Repertoire Reveals a Spectrum of Fc-Receptor- and Complement-Mediated-Effector Activities.

Frontiers in immunology

Dekkers G, Treffers L, Plomp R, Bentlage AEH, de Boer M, Koeleman CAM, Lissenberg-Thunnissen SN, Visser R, Brouwer M, Mok JY, Matlung H, van den Berg TK, van Esch WJE, Kuijpers TW, Wouters D, Rispens T, Wuhrer M, Vidarsson G.
PMID: 28824618
Front Immunol. 2017 Aug 02;8:877. doi: 10.3389/fimmu.2017.00877. eCollection 2017.

Glycosylation of the immunoglobulin G (IgG)-Fc tail is required for binding to Fc-gamma receptors (FcγRs) and complement-component C1q. A variety of IgG1-glycoforms is detected in human sera. Several groups have found global or antigen-specific skewing of IgG glycosylation, for...

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Dekkers G, Treffers L, Plomp R, et al. Decoding the Human Immunoglobulin G-Glycan Repertoire Reveals a Spectrum of Fc-Receptor- and Complement-Mediated-Effector Activities. Front Immunol. 2017;8:877doi: 10.3389/fimmu.2017.00877.
Dekkers, G., Treffers, L., Plomp, R., Bentlage, A. E. H., de Boer, M., Koeleman, C. A. M., Lissenberg-Thunnissen, S. N., Visser, R., Brouwer, M., Mok, J. Y., Matlung, H., van den Berg, T. K., van Esch, W. J. E., Kuijpers, T. W., Wouters, D., Rispens, T., Wuhrer, M., & Vidarsson, G. (2017). Decoding the Human Immunoglobulin G-Glycan Repertoire Reveals a Spectrum of Fc-Receptor- and Complement-Mediated-Effector Activities. Frontiers in immunology, 8877. https://doi.org/10.3389/fimmu.2017.00877
Dekkers, Gillian, et al. "Decoding the Human Immunoglobulin G-Glycan Repertoire Reveals a Spectrum of Fc-Receptor- and Complement-Mediated-Effector Activities." Frontiers in immunology vol. 8 (2017): 877. doi: https://doi.org/10.3389/fimmu.2017.00877
Dekkers G, Treffers L, Plomp R, Bentlage AEH, de Boer M, Koeleman CAM, Lissenberg-Thunnissen SN, Visser R, Brouwer M, Mok JY, Matlung H, van den Berg TK, van Esch WJE, Kuijpers TW, Wouters D, Rispens T, Wuhrer M, Vidarsson G. Decoding the Human Immunoglobulin G-Glycan Repertoire Reveals a Spectrum of Fc-Receptor- and Complement-Mediated-Effector Activities. Front Immunol. 2017 Aug 02;8:877. doi: 10.3389/fimmu.2017.00877. eCollection 2017. PMID: 28824618; PMCID: PMC5539844.
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Exercise and other nonpharmacological strategies to reduce blood pressure in older adults: a systematic review and meta-analysis.

Journal of the American Society of Hypertension : JASH

Herrod PJJ, Doleman B, Blackwell JEM, O'Boyle F, Williams JP, Lund JN, Phillips BE.
PMID: 29496468
J Am Soc Hypertens. 2018 Apr;12(4):248-267. doi: 10.1016/j.jash.2018.01.008. Epub 2018 Feb 02.

The incidence of hypertension increases with advancing age and represents a significant burden of disease. Lifestyle modification represents the first-line intervention in treatment algorithms; however, the majority of evidence for this comes from studies involving young participants using interventions...

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Herrod PJJ, Doleman B, Blackwell JEM, et al. Exercise and other nonpharmacological strategies to reduce blood pressure in older adults: a systematic review and meta-analysis. J Am Soc Hypertens. 2018;12(4):248-267doi: 10.1016/j.jash.2018.01.008.
Herrod, P. J. J., Doleman, B., Blackwell, J. E. M., O'Boyle, F., Williams, J. P., Lund, J. N., & Phillips, B. E. (2018). Exercise and other nonpharmacological strategies to reduce blood pressure in older adults: a systematic review and meta-analysis. Journal of the American Society of Hypertension : JASH, 12(4), 248-267. https://doi.org/10.1016/j.jash.2018.01.008
Herrod, Philip J J, et al. "Exercise and other nonpharmacological strategies to reduce blood pressure in older adults: a systematic review and meta-analysis." Journal of the American Society of Hypertension : JASH vol. 12,4 (2018): 248-267. doi: https://doi.org/10.1016/j.jash.2018.01.008
Herrod PJJ, Doleman B, Blackwell JEM, O'Boyle F, Williams JP, Lund JN, Phillips BE. Exercise and other nonpharmacological strategies to reduce blood pressure in older adults: a systematic review and meta-analysis. J Am Soc Hypertens. 2018 Apr;12(4):248-267. doi: 10.1016/j.jash.2018.01.008. Epub 2018 Feb 02. PMID: 29496468.
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Effects of Intranasal Orexin-A (Hypocretin-1) Administration on Neuronal Activation, Neurochemistry, and Attention in Aged Rats.

Frontiers in aging neuroscience

Calva CB, Fayyaz H, Fadel JR.
PMID: 32038222
Front Aging Neurosci. 2020 Jan 22;11:362. doi: 10.3389/fnagi.2019.00362. eCollection 2019.

Cognitive function represents a key determinative factor for independent functioning among the elderly, especially among those with age-related cognitive disorders. However; existing pharmacotherapeutic tactics for treating these disorders provide only modest benefits on cognition. The hypothalamic orexin (hypocretin) system...

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Calva CB, Fayyaz H, Fadel JR. Effects of Intranasal Orexin-A (Hypocretin-1) Administration on Neuronal Activation, Neurochemistry, and Attention in Aged Rats. Front Aging Neurosci. 2020;11:362doi: 10.3389/fnagi.2019.00362.
Calva, C. B., Fayyaz, H., & Fadel, J. R. (2019). Effects of Intranasal Orexin-A (Hypocretin-1) Administration on Neuronal Activation, Neurochemistry, and Attention in Aged Rats. Frontiers in aging neuroscience, 11362. https://doi.org/10.3389/fnagi.2019.00362
Calva, Coleman B, et al. "Effects of Intranasal Orexin-A (Hypocretin-1) Administration on Neuronal Activation, Neurochemistry, and Attention in Aged Rats." Frontiers in aging neuroscience vol. 11 (2019): 362. doi: https://doi.org/10.3389/fnagi.2019.00362
Calva CB, Fayyaz H, Fadel JR. Effects of Intranasal Orexin-A (Hypocretin-1) Administration on Neuronal Activation, Neurochemistry, and Attention in Aged Rats. Front Aging Neurosci. 2020 Jan 22;11:362. doi: 10.3389/fnagi.2019.00362. eCollection 2019. PMID: 32038222; PMCID: PMC6987046.
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CRISPRa-Mediated Upregulation of .

The CRISPR journal

Weuring WJ, Dilevska I, Hoekman J, van de Vondervoort J, Koetsier M, van 't Slot RH, Braun KPJ, Koeleman BPC.
PMID: 34406040
CRISPR J. 2021 Aug;4(4):575-582. doi: 10.1089/crispr.2021.0013.

Dravet syndrome (DS) is a monogenic epileptic encephalopathy caused by loss-of-function mutations in the voltage-gated sodium channel (VGSC) gene

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Weuring WJ, Dilevska I, Hoekman J, et al. CRISPRa-Mediated Upregulation of . CRISPR J. 2021;4(4):575-582doi: 10.1089/crispr.2021.0013.
Weuring, W. J., Dilevska, I., Hoekman, J., van de Vondervoort, J., Koetsier, M., van 't Slot, R. H., Braun, K. P. J., & Koeleman, B. P. C. (2021). CRISPRa-Mediated Upregulation of . The CRISPR journal, 4(4), 575-582. https://doi.org/10.1089/crispr.2021.0013
Weuring, Wout J, et al. "CRISPRa-Mediated Upregulation of ." The CRISPR journal vol. 4,4 (2021): 575-582. doi: https://doi.org/10.1089/crispr.2021.0013
Weuring WJ, Dilevska I, Hoekman J, van de Vondervoort J, Koetsier M, van 't Slot RH, Braun KPJ, Koeleman BPC. CRISPRa-Mediated Upregulation of . CRISPR J. 2021 Aug;4(4):575-582. doi: 10.1089/crispr.2021.0013. PMID: 34406040.
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Development of an in-house SARS-CoV-2 interferon-gamma ELISpot and plate reader-free spot detection method.

Journal of virological methods

Mak WA, Koeleman JGM, Ong DSY.
PMID: 34863782
J Virol Methods. 2021 Dec 01;300:114398. doi: 10.1016/j.jviromet.2021.114398. Epub 2021 Dec 01.

Coronavirus disease 2019 (COVID-19) vaccination programs rolled out in an attempt to stop the COVID-19 pandemic. Besides neutralising antibodies, effective T cell responses are also crucial for protection against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and COVID-19...

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Mak WA, Koeleman JGM, Ong DSY. Development of an in-house SARS-CoV-2 interferon-gamma ELISpot and plate reader-free spot detection method. J Virol Methods. 2021;300:114398doi: 10.1016/j.jviromet.2021.114398.
Mak, W. A., Koeleman, J. G. M., & Ong, D. S. Y. (2021). Development of an in-house SARS-CoV-2 interferon-gamma ELISpot and plate reader-free spot detection method. Journal of virological methods, 300114398. https://doi.org/10.1016/j.jviromet.2021.114398
Mak, Willem A, et al. "Development of an in-house SARS-CoV-2 interferon-gamma ELISpot and plate reader-free spot detection method." Journal of virological methods vol. 300 (2021): 114398. doi: https://doi.org/10.1016/j.jviromet.2021.114398
Mak WA, Koeleman JGM, Ong DSY. Development of an in-house SARS-CoV-2 interferon-gamma ELISpot and plate reader-free spot detection method. J Virol Methods. 2021 Dec 01;300:114398. doi: 10.1016/j.jviromet.2021.114398. Epub 2021 Dec 01. PMID: 34863782; PMCID: PMC8634702.
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RBM20-Related Cardiomyopathy: Current Understanding and Future Options.

Journal of clinical medicine

Koelemen J, Gotthardt M, Steinmetz LM, Meder B.
PMID: 34575212
J Clin Med. 2021 Sep 11;10(18). doi: 10.3390/jcm10184101.

Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution of splice-regulatory networks in many diseases, such as cardiomyopathies. Adaptive splice regulators, such as RNA-binding motif...

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Koelemen J, Gotthardt M, Steinmetz LM, et al. RBM20-Related Cardiomyopathy: Current Understanding and Future Options. J Clin Med. 2021;10(18)doi: 10.3390/jcm10184101.
Koelemen, J., Gotthardt, M., Steinmetz, L. M., & Meder, B. (2021). RBM20-Related Cardiomyopathy: Current Understanding and Future Options. Journal of clinical medicine, 10(18), . https://doi.org/10.3390/jcm10184101
Koelemen, Jan, et al. "RBM20-Related Cardiomyopathy: Current Understanding and Future Options." Journal of clinical medicine vol. 10,18 (2021). doi: https://doi.org/10.3390/jcm10184101
Koelemen J, Gotthardt M, Steinmetz LM, Meder B. RBM20-Related Cardiomyopathy: Current Understanding and Future Options. J Clin Med. 2021 Sep 11;10(18). doi: 10.3390/jcm10184101. PMID: 34575212; PMCID: PMC8468976.
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