Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy by Kellner, Shai, Abbasi, Abeer, Carmi, Ido, Heinrich, Ronit, Garin-Shkolnik, Tali, Hershkovitz, Tova, Giladi, Moshe, Haitin, Yoni, Johannesen, Katrine M, Steensbjerre Møller, Rikke, Berlin, Shai

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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome by Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N

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GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature? by Bayat, Allan, Lindau, Tobias, Aledo‐Serrano, Angel, Gil‐Nagel, Antonio, Barić, Ivo, Bartoniček, Dorotea, Mateševac, Josipa, Ramadža, Danijela Petković, Žigman, Tamara, Pušeljić, Silvija, Dorner, Sanja, Bupp, Caleb, Devries, Seth, Møller, Rikke Steensbjerre

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies by Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants by Mohammadi, Nazanin Azarinejad, Ahring, Philip Kiær, Yu Liao, Vivian Wan, Chua, Han Chow, Ortiz de la Rosa, Sebastián, Johannesen, Katrine Marie, Michaeli-Yossef, Yael, Vincent-Devulder, Aline, Meridda, Catherine, Bruel, Ange-Line, Rossi, Alessandra, Patel, Chirag, Klepper, Joerg, Bonanni, Paolo, Minghetti, Sara, Trivisano, Marina, Specchio, Nicola, Amor, David, Auvin, Stéphane, Baer, Sarah, Meyer, Pierre, Milh, Mathieu, Salpietro, Vincenzo, Maroofian, Reza, Lemke, Johannes R., Weckhuysen, Sarah, Christophersen, Palle, Rubboli, Guido, Chebib, Mary, Jensen, Anders A., Absalom, Nathan L., Møller, Rikke Steensbjerre

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The impact of severe pediatric epilepsy on experienced stress and psychopathology in parents by Jakobsen, Anne Vagner, Møller, Rikke Steensbjerre, Nikanorova, Marina, Elklit, Ask

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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome by Lund, Caroline, Striano, Pasquale, Sorte, Hanne Sørmo, Parisi, Pasquale, Iacomino, Michele, Sheng, Ying, Vigeland, Magnus D., Øye, Anne-Marte, Steensbjerre Møller, Rikke, Selmer, Kaja K., Zara, Federico

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The role of SLC2A1 in early onset and childhood absence epilepsies by Muhle, Hiltrud, Helbig, Ingo, Frøslev, Tobias Guldberg, Suls, Arvid, von Spiczak, Sarah, Klitten, Laura Line, Dahl, Hans Atli, Brusgaard, Klaus, Neubauer, Bernd, De Jonghe, Peter, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Møller, Rikke Steensbjerre

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Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv‐specific Pro‐Val‐Pro motif: phenotypic description and remarkable electroclinical... by Russo, Angelo, Gobbi, Giuseppe, Pini, Antonella, M⊘ller, Rikke Steensbjerre, Rubboli, Guido

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Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe by Møller, RS, Hansen, CP, Jackson, GD, Ullmann, R, Ropers, HH, Tommerup, N, Tümer, Z

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Dysregulation of FOXG1 by ring chromosome 14 by Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder by Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, Del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M, Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amélie

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Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures by Iqbal, Sumaiya, Berg Jespersen, Jakob, Perez-Palma, Eduardo, May, Patrick, Heyne, Henrike, Lage, Kasper, Steensbjerre Møller, Rikke, Wagner, Florence F., Daly, Mark, Campbell, Arthur J., Lal, Dennis

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Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and he... by LITU ZHANG, TÜMER, Zeynep, TOMMERUP, Niels, LARSEN, Lars Allan, MØLLGARD, Kjeld, BARBI, Gotthold, ROSSIER, Eva, BENDSEN, Eske, MØLLER, Rikke Steensbjerre, ULLMANN, Reinhard, JIAN HE, PAPADOPOULOS, Nickolas

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context by Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

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The role of SLC 2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT 1 deficiency syndrome by Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, von Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre

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Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study by Gjerulfsen, Cathrine E, Nikanorova, Marina, Olofsson, Kern, Landmark, Cecilie Johannessen, Rubboli, Guido, Møller, Rikke Steensbjerre

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Dysregulation of FOXG1 by ring chromosome 14 by Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels

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