Search Results - "Peeters, Els A. J"

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome by Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein

“…Gijs Santen and colleagues report mutations in the SWI/SNF subunit gene ARID1B in Coffin-Siris syndrome. We identified de novo truncating mutations in ARID1B…”
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Recurrent KIF2A mutations are responsible for classic lissencephaly by Cavallin, Mara, Bijlsma, Emilia K., El Morjani, Adrienne, Moutton, Sébastien, Peeters, Els A. J., Maillard, Camille, Pedespan, Jean Michel, Guerrot, Anne-Marie, Drouin-Garaud, Valérie, Coubes, Christine, Genevieve, David, Bole-Feysot, Christine, Fourrage, Cecile, Steffann, Julie, Bahi-Buisson, Nadia

“…Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal…”
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Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood by Arts, Willem F. M., Brouwer, Oebele F., Peters, A. C. Boudewijn, Stroink, Hans, Peeters, Els A. J., Schmitz, Paul I. M., van Donselaar, Cees A., Geerts, Ada T.

“…Knowing the prognosis of epilepsy will undoubtedly influence the treatment strategy. This study aimed to define the prospects of newly diagnosed childhood…”
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan by Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E L M, Schraders, Margit, Altunoglu, Umut, Buckley, Michael F, Brunner, Han G, Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A, Gilissen, Christian, Mancini, Grazia M S, Delrée, Paul, Willemsen, Michèl A, Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A J, Tan-Sindhunata, Gita M B, de Die-Smulders, Christine E, Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L, Lefeber, Dirk J, Lin, Yung-Yao, van Bokhoven, Hans

“…Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus,…”
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Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood by Callenbach, Petra M.C, Bouma, Paul A.D, Geerts, Ada T, Arts, Willem Frans M, Stroink, Hans, Peeters, Els A.J, van Donselaar, Cees A, Peters, A.C. Boudewijn, Brouwer, Oebele F

“…Summary We determined long-term outcome and the predictive value of baseline and EEG characteristics on seizure activity evolution in 47 children with newly…”
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Validation of Two Prognostic Models Predicting Outcome at Two Years after Diagnosis in a New Cohort of Children with Epilepsy: The Dutch Study of Epilepsy in Childhood by Geerts, Ada T., Arts, Willem F. M., Brouwer, Oebele F., Peters, A. C. Boudewijn, Peeters, Els A. J., Stroink, Hans, Van Donselaar, Cees A.

“…Purpose: To validate two prognostic models for childhood‐onset epilepsy designed to predict a terminal remission of <6 months at 2 years after diagnosis in…”
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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study by Verhagen, Mijke M. M., Last, James I., Hogervorst, Frans B. L., Smeets, Dominique F. C. M., Roeleveld, Nel, Verheijen, Frans, Catsman-Berrevoets, Coriene E., Wulffraat, Nico M., Cobben, Jan M., Hiel, Johan, Brunt, Ewout R., Peeters, Els A. J., Gómez Garcia, Encarna B., van der Knaap, Marjo S., Lincke, Carsten R., Laan, Laura A. E. M., Tijssen, Marina A. J., van Rijn, Monique A., Majoor-Krakauer, Danielle, Visser, Marjan, van 't Veer, Laura J., Kleijer, Wim J., van de Warrenburg, Bart P. C., Warris, Adilia, de Groot, Imelda J. M., de Groot, Ronald, Broeks, Annegien, Preijers, Frank, Kremer, Berry H. P. H., Weemaes, Corry M. R., Taylor, Malcolm A. M. R., van Deuren, Marcel, Willemsen, Michèl A. A. P.

“…Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in…”
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Long term outcome of benign childhood epilepsy with centrotemporal spikes: Dutch Study of Epilepsy in Childhood by Callenbach, Petra M.C, Bouma, Paul A.D, Geerts, Ada T, Arts, Willem Frans M, Stroink, Hans, Peeters, Els A.J, van Donselaar, Cees A, Peters, A.C. Boudewijn, Brouwer, Oebele F

“…Abstract Purpose To determine long-term outcome in a cohort of children with newly diagnosed benign childhood epilepsy with centrotemporal spikes (BECTS)…”
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Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation by Bakker, Mirte J., Peeters, Els A.J., Tijssen, Marina A.J.

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Childhood epilepsy with a small number of seizures may be left untreated: an international prospective study by Arts, Willem F., Geerts, Ada T., Brouwer, Oebele F., van Donselaar, Cees A., Stroink, Hans, Peters, Boudewijn AC, Peeters, Els AJ, Camfield, Peter, Camfield, Carol

“…ABSTRACT Aims. It is unknown whether treatment with antiepileptic drugs in children with epilepsy with a presumed good prognosis is always necessary. We aimed…”
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Add-on levetiracetam in children and adolescents with refractory epilepsy: Results of an open-label multi-centre study by Callenbach, Petra M.C, Arts, Willem Frans M, ten Houten, Robert, Augustijn, Paul, Gunning, W. Boudewijn, Peeters, Els A.J, Weber, Alma M, Stroink, Hans, Geerts, Yvette, Geerts, Ada T, Brouwer, Oebele F

“…Abstract Purpose To study the efficacy and tolerability of add-on levetiracetam in children and adolescents with refractory epilepsy. Methods In this…”
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Mortality Risk in Children With Epilepsy: The Dutch Study of Epilepsy in Childhood by Callenbach, Petra M. C, Westendorp, Rudi G. J, Geerts, Ada T, Arts, Willem Frans M, Peeters, Els A. J, van Donselaar, Cees A, Peters, A. C. Boudewyn, Stroink, Hans, Brouwer, Oebele F

“…Long-term follow-up studies of patients with epilepsy have revealed an increased mortality risk compared with the general population. Mortality of children who…”
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Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease by Nelen, Marcel R., van Staveren, Wilma C. G., Peeters, Els A. J., Ben Hassel, Mohammed, Gorlin, Robert J., Hamm, Henning, Lindboe, Christian F., Fryns, Jean-Pierre, Sijmons, Rolf H., Woods, D. Geoffrey, Mariman, Edwin C. M., Padberg, George W., Kremer, Hannie

“…Cowden disease, also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome with a high risk of breast and thyroid cancer. The gene…”
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of [alpha]-dystroglycan by Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E L M, Schraders, Margit, Altunoglu, Umut, Buckley, Michael F, Brunner, Han G, Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A, Gilissen, Christian, Mancini, Grazia M S, Delree, Paul, Willemsen, Michel A, Ramadza, Danijela Petkovic, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A J, Tan-Sindhunata, Gita M B, deDie-Smulders, Christine E, Devriendt, Koenraad, Kayserili, Hulya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L, Lefeber, Dirk J, Lin, Yung-Yao, van Bokhoven, Hans

“…Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular…”
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Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect by Van Der Knaap, Marjo S., Verhoeven, Nanda M., Maaswinkel-Mooij, Petra, Pouwels, Petra J. W., Onkenhout, Wim, Peeters, Els A. J., Stöckler-Ipsiroglu, Sylvia, Jakobs, Cornelius

“…Recently, 3 patients with a creatine synthesis defect have been described. They presented with developmental regression, extrapyramidal movement abnormalities,…”
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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations by Nelen, M R, Kremer, H, Konings, I B, Schoute, F, van Essen, A J, Koch, R, Woods, C G, Fryns, J P, Hamel, B, Hoefsloot, L H, Peeters, E A, Padberg, G W

“…Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas…”
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Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation by Bakker, Mirte J, Peeters, Els A J, Tijssen, Marina A J

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