Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies
Lauxmann, Stephan, Verbeek, Nienke E., Liu, Yuanyuan, Zaichuk, Mariana, Müller, Stephan, Lemke, Johannes R., Kempen, Marjan J.A., Lerche, Holger, Hedrich, Ulrike B.S.
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Mutations in KCNT1 cause a spectrum of focal epilepsies
Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes
Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C. M., Gemert, Lisette, Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V. A. M., Koeleman, Bobby P. C., Brilstra, Eva H.
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
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Etiologies for seizures around the time of vaccination
Verbeek, Nienke E, Jansen, Floor E, Vermeer-de Bondt, Patricia E, de Kovel, Carolien G, van Kempen, Marjan J A, Lindhout, Dick, Knoers, Nine V A M, van der Maas, Nicoline A T, Brilstra, Eva H
Published in Pediatrics (Evanston) (01.10.2014)
Published in Pediatrics (Evanston) (01.10.2014)
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Pitfalls in genetic testing: the story of missed SCN1A mutations
Djémié, Tania, Weckhuysen, Sarah, Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Published in Molecular genetics & genomic medicine (01.07.2016)
Published in Molecular genetics & genomic medicine (01.07.2016)
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Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes
de Lange, Iris M., Koudijs, Marco J., Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., van Gemert, Lisette J. J. M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J. A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M. C., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Epilepsia (Copenhagen) (01.03.2018)
Published in Epilepsia (Copenhagen) (01.03.2018)
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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study
Verbeek, Nienke E, van der Maas, Nicoline A T, Jansen, Floor E, van Kempen, Marjan J A, Lindhout, Dick, Brilstra, Eva H
Published in PloS one (06.06.2013)
Published in PloS one (06.06.2013)
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Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing
de Lange, Iris M, Koudijs, Marco J, van ‘t Slot, Ruben, Sonsma, Anja C M, Mulder, Flip, Carbo, Ellen C, van Kempen, Marjan J A, Nijman, Isaac J, Ernst, Robert F, Savelberg, Sanne M C, Knoers, Nine V A M, Brilstra, Eva H, Koeleman, Bobby P C
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Modifier genes in SCN1A‐related epilepsy syndromes
de Lange, Iris M., Mulder, Flip, Slot, Ruben, Sonsma, Anja C. M., Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Neurotherapeutics (01.01.2016)
Published in Neurotherapeutics (01.01.2016)
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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M
Published in Epilepsia open (01.12.2023)
Published in Epilepsia open (01.12.2023)
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Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies
Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M, Møller, Rikke S, Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A, Klitten, Laura L, Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J A, Helbig, Ingo
Published in Journal of child neurology (01.05.2014)
Published in Journal of child neurology (01.05.2014)
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Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions
Volkers, Linda, Rook, Martin B., Das, Joost H.G., Verbeek, Nienke E., Groenewegen, W. Antoinette, van Kempen, Marjan J.A., Lindhout, Dick, Koeleman, Bobby P.C.
Published in Neuroscience letters (02.10.2009)
Published in Neuroscience letters (02.10.2009)
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Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
Lange, Iris M., Weuring, Wout, ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, Kovel, Carolien, Gemert, Lisette J. J. M., Mulder, Flip, Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Kovel, Carolien G.F., Brilstra, Eva H., Kempen, Marjan J.A., Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber
Published in Molecular genetics & genomic medicine (01.09.2016)
Published in Molecular genetics & genomic medicine (01.09.2016)
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Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
Volkers, Linda, Kahlig, Kristopher M., Verbeek, Nienke E., Das, Joost H. G., van Kempen, Marjan J. A., Stroink, Hans, Augustijn, Paul, van Nieuwenhuizen, Onno, Lindhout, Dick, George Jr, Alfred L., Koeleman, Bobby P. C., Rook, Martin B.
Published in The European journal of neuroscience (01.10.2011)
Published in The European journal of neuroscience (01.10.2011)
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Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation
Volkers, Linda, Kahlig, Kristopher M, Das, Joost H G, van Kempen, Marjan J A, Lindhout, Dick, Koeleman, Bobby P C, Rook, Martin B
Published in The Journal of general physiology (01.12.2013)
Published in The Journal of general physiology (01.12.2013)
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Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
Herini, Elisabeth Siti, Gunadi, Van Kempen, Marjan J.A., Yusoff, Surini, Sutaryo, Sunartini, Patria, Suryono Yudha, Matsuo, Masafumi, Lindhout, Dick, Nishio, Hisahide
Published in Pediatrics international (01.04.2010)
Published in Pediatrics international (01.04.2010)
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A retrospective population‐based study on seizures related to childhood vaccination
von Spiczak, Sarah, Helbig, Ingo, Drechsel‐Baeuerle, Ursula, Muhle, Hiltrud, van Baalen, Andreas, van Kempen, Marjan J., Lindhout, Dick, Scheffer, Ingrid E., Berkovic, Samuel F., Stephani, Ulrich, Keller‐Stanislawski, Brigitte
Published in Epilepsia (Copenhagen) (01.08.2011)
Published in Epilepsia (Copenhagen) (01.08.2011)
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