Search Results - "Vlaskamp, Danique R.M"

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy by Vlaskamp, Danique R.M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M.S, van de Laar, Ingrid M.B.H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M.A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E

“…OBJECTIVETo delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODSPatients were recruited via…”
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Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy by Vlaskamp, Danique R.M, Rump, Patrick, Callenbach, Petra M.C, Vos, Yvonne J, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M.A, Brouwer, Oebele F

“…Abstract We describe an 18-year-old male patient with myoclonic astatic epilepsy (MAE), moderate to severe intellectual disability, behavioural problems,…”
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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome by 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

“…To describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype-phenotype correlation. We…”
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Copy number variation in a hospital-based cohort of children with epilepsy by Vlaskamp, Danique R M, Callenbach, Petra M C, Rump, Patrick, Giannini, Lucia A A, Dijkhuizen, Trijnie, Brouwer, Oebele F, van Ravenswaaij-Arts, Conny M A

“…To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and…”
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Treatment of prolonged convulsive seizures in children; a single centre, retrospective, observational study by Vlaskamp, Danique R.M, Brouwer, Oebele F, Callenbach, Petra M.C

“…Abstract Objectives To evaluate treatment of children with Prolonged Convulsive Seizures (PCS) at the University Medical Centre Groningen (UMCG). Material and…”
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Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy by Vlaskamp, Danique R.M., Scheffer, Ingrid E.

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First autochthonous human West Nile virus infections in the Netherlands, July to August 2020 by Vlaskamp, Danique Rm, Thijsen, Steven Ft, Reimerink, Johan, Hilkens, Pieter, Bouvy, Willem H, Bantjes, Sabine E, Vlaminckx, Bart Jm, Zaaijer, Hans, van den Kerkhof, Hans Htc, Raven, Stijn Fh, Reusken, Chantal Bem

“…In October 2020, the first case of autochthonous West Nile virus neuroinvasive disease was diagnosed in the Netherlands with a presumed infection in the last…”
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Schizophrenia is a later‐onset feature of PCDH19 Girls Clustering Epilepsy by Vlaskamp, Danique R. M., Bassett, Anne S., Sullivan, Joseph E., Robblee, Jennifer, Sadleir, Lynette G., Scheffer, Ingrid E., Andrade, Danielle M.

“…Summary Objective To investigate the occurrence of psychosis and serious behavioral problems in females with protocadherin 19 gene (PCDH19) pathogenic…”
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Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection by Cowley, Mark J, Liu, Yu‐Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo, Melanie, Scheffer, Ingrid E., Dinger, Marcel E., Roscioli, Tony

“…Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and…”
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Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy by Vlaskamp, Danique R.M., Rump, Patrick, Callenbach, Petra M.C., Brilstra, Eva H., Velthuizen, Mary E., Brouwer, Oebele F., Ranchor, Adelita V., van Ravenswaaij-Arts, Conny M.A.

“…Genetic testing and counselling are increasingly important in epilepsy care, aiming at finding a diagnosis, understanding aetiology and improving treatment and…”
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PRRT2-related phenotypes in patients with a 16p11.2 deletion by Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne-Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., van Ravenswaaij-Arts, Conny M.A.

“…We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with infantile convulsions (PKD/IC) in patients…”
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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants by Berecki, Géza, Howell, Katherine B., Heighway, Jacqueline, Olivier, Nelson, Rodda, Jill, Overmars, Isabella, Vlaskamp, Danique R. M., Ware, Tyson L., Ardern-Holmes, Simone, Lesca, Gaetan, Alber, Michael, Veggiotti, Pierangelo, Scheffer, Ingrid E., Berkovic, Samuel F., Wolff, Markus, Petrou, Steven

“…In SCN2A- related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of…”
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