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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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Lee, Jae-Ran, Srour, Myriam, Kim, Doyoun, Hamdan, Fadi. F., Lim, So-Hee, Brunel-Guitton, Catherine, Décarie, Jean-Claude, Rossignol, Elsa, Mitchell, Grant A., Schreiber, Allison, Moran, Rocio, Van Haren, Keith, Richardson, Randal, Nicolai, Joost, Oberndorff, Karin M.E.J., Wagner, Justin D., Boycott, Kym M., Rahikkala, Elisa, Junna, Nella, Tyynismaa, Henna, Cuppen, Inge, Verbeek, Nienke E., Stumpel, Connie T.R.M., Willemsen, Michel A., de Munnik, Sonja A., Rouleau, Guy A., Kim, Eunjoon, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Michaud, Jacques L.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., Tekin, Mustafa
Published in Human genetics (01.02.2015)
Published in Human genetics (01.02.2015)
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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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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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A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
van der Zwaag, Bert, Staal, Wouter G., Hochstenbach, Ron, Poot, Martin, Spierenburg, Henk A., de Jonge, Maretha V., Verbeek, Nienke E., van 't Slot, Ruben, van Es, Michael A., Staal, Frank J., Freitag, Christine M., Buizer-Voskamp, Jacobine E., Nelen, Marcel R., van den Berg, Leonard H., van Amstel, Hans K. Ploos, van Engeland, Herman, Burbach, J. Peter H.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2010)
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Record, Christopher J, O'Connor, Antoinette, Verbeek, Nienke E, van Rheenen, Wouter, Zamba Papanicolaou, Eleni, Peric, Stojan, Ligthart, Peter C, Skorupinska, Mariola, van Binsbergen, Ellen, Campeau, Philippe M, Ivanovic, Vukan, Hennigan, Brian, McHugh, John C, Blake, Julian C, Murakami, Yoshiko, Laura, Matilde, Murphy, Sinéad M, Reilly, Mary M
Published in Annals of neurology (23.10.2024)
Published in Annals of neurology (23.10.2024)
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Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families
Pol, Milo, O'Gorman, Luke, Corominas‐Galbany, Jordi, Cliteur, Maaike, Derks, Ronny, Verbeek, Nienke E., Warrenburg, Bart, Kamsteeg, Erik‐Jan
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
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Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
DAALEN, Emma Van, KEMNER, Chantal, BEEMER, Frits A, VORSTMAN, Jacob A. S, BURBACH, J. Peter H, VAN AMSTEL, Hans Kristian Ploos, HOCHSTENBACH, Ron, BRILSTRA, Eva H, POOT, Martin, VERBEEK, Nienke E, DER ZWAAG, Bert Van, DIJKHUIZEN, Trijnie, RUMP, Patrick, HOUBEN, Renske, VAN 'T SLOT, Ruben, DE JONGE, Maretha V, STAAL, Wouter G
Published in Neurogenetics (01.11.2011)
Published in Neurogenetics (01.11.2011)
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo
Published in Brain (London, England : 1878) (01.09.2017)
Published in Brain (London, England : 1878) (01.09.2017)
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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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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
Published in Brain (London, England : 1878) (29.03.2022)
Published in Brain (London, England : 1878) (29.03.2022)
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Outcomes and comorbidities of SCN1A-related seizure disorders
de Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette, van Kempen, Marjan, Verbeek, Nienke E., Sinoo, Claudia, Nicolai, Joost, Knoers, Nine V.A.M., Koeleman, Bobby P.C., Brilstra, Eva H.
Published in Epilepsy & behavior (01.01.2019)
Published in Epilepsy & behavior (01.01.2019)
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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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The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy
Datta, Alexandre N., Bahi‐Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E., Gardiner, Fiona, Cross, J. Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian M., Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C., Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M., Ruf, Susanne, Sadleir, Lynette G., Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E., Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E., Lemke, Johannes R.
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published in Journal of medical genetics (01.05.2013)
Published in Journal of medical genetics (01.05.2013)
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.
Published in Human genetics (01.06.2024)
Published in Human genetics (01.06.2024)
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