Whole Genome Sequencing of Aggregatibacter actinomycetemcomitans Cultured from Blood Stream Infections Reveals Three Major Phylogenetic Groups Including a Novel Lineage Expressing... von Nedergaard, Signe, Kobel, Carl M, Nielsen, Marie B, Møller, Rikke T, Jensen, Anne B, Nørskov-Lauritsen, Niels

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies von Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy von Mignot, Cyril, von Stülpnagel, Celina, Nava, Caroline, Ville, Dorothée, Sanlaville, Damien, Lesca, Gaetan, Rastetter, Agnès, Gachet, Benoit, Marie, Yannick, Korenke, G Christoph, Borggraefe, Ingo, Hoffmann-Zacharska, Dorota, Szczepanik, Elżbieta, Rudzka-Dybała, Mariola, Yiş, Uluç, Çağlayan, Hande, Isapof, Arnaud, Marey, Isabelle, Panagiotakaki, Eleni, Korff, Christian, Rossier, Eva, Riess, Angelika, Beck-Woedl, Stefanie, Rauch, Anita, Zweier, Christiane, Hoyer, Juliane, Reis, André, Mironov, Mikhail, Bobylova, Maria, Mukhin, Konstantin, Hernandez-Hernandez, Laura, Maher, Bridget, Sisodiya, Sanjay, Kuhn, Marius, Glaeser, Dieter, Weckhuysen, Sarah, Myers, Candace T, Mefford, Heather C, Hörtnagel, Konstanze, Biskup, Saskia, Lemke, Johannes R, Héron, Delphine, Kluger, Gerhard, Depienne, Christel, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah

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GRIN2A-related disorders: genotype and functional consequence predict phenotype von Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R

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The phenotypic spectrum of SCN8A encephalopathy von Larsen, Jan, Carvill, Gemma L, Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A, Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M, Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G F, Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Møller, Rikke S

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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies von Myers, Candace T., McMahon, Jacinta M., Schneider, Amy L., Petrovski, Slavé, Allen, Andrew S., Carvill, Gemma L., Zemel, Matthew, Saykally, Julia E., LaCroix, Amy J., Heinzen, Erin L., Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Johnson, Michael R., Kuzniecky, Ruben, Marson, Anthony G., O’Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Poduri, Annapurna, Pickrell, William O., Chung, Seo-Kyung, Rees, Mark I., Sherr, Elliott, Sadleir, Lynette G., Goldstein, David B., Lowenstein, Daniel H., Møller, Rikke S., Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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Early mortality in STXBP1-related disorders von Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E, Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Rubboli, Guido, Møller, Rikke S, Gardella, Elena

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy von Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies von Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

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CHD2 variants are a risk factor for photosensitivity in epilepsy von Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Camila V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M

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Diagnostic implications of genetic copy number variation in epilepsy plus von Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Dijck, Anke, Zuffardi, Orsetta

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De novo mutations in HCN1 cause early infantile epileptic encephalopathy von Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline von Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C, Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A, Helbig, Katherine L, Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish von Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, De Jonghe, Peter

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies von Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G, Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C M, Koeleman, Bobby P, Lindhout, Dick, Weber, Yvonne G, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J, Kunz, Wolfram S, Surges, Rainer, Elger, Christian E, Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M, Rosenow, Felix, Neubauer, Bernd A, Reinthaler, Eva M, Zimprich, Fritz, Feucht, Martha, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas

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Carbamazepine‐ and oxcarbazepine‐induced hyponatremia in people with epilepsy von Berghuis, Bianca, Palen, Job, Haan, Gerrit‐Jan, Lindhout, Dick, Koeleman, Bobby P. C., Sander, Josemir W., Møller, Rikke S., Nikanorova, Marina, Ingason, Andrés, Depondt, Chantal, Johnson, Michael R, Langley, Sarah R., Klein, Karl Martin, McCormack, Mark, Delanty, Norman, Cavalleri, Gianpiero L., Zijl, Janic, Muhle, Hiltrud, Borghei, Mojgansadat, Donatello, Simona, Willis, Joseph, Leu, Costin, Heggeli, Kristin, Avbersek, Andreja, Sisodiya, Sanjay M., Gamberdella, Antonio, Weckhuysen, Sarah, Kunz, Wolfram S., Striano, Pasquale, Zara, Federico, Brodie, Martin J., Stefánsson, Kári, Marson, Anthony G, Jorgensen, Andrea, Auce, Pauls, Francis, Ben, Srivastava, Prashant, Sills, Graeme J., Primec, Zvonka Rener, Krause, Roland, Wolking, Stefan, Weber, Yvonne, Rau, Sarah, Hengsbach, Christian, Lerche, Holger, Sonsma, Anja, Krenn, Martin, Zimprich, Fritz, Pataraia, Ekaterina

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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy von Lal, Dennis, Trucks, Holger, Møller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, Sander, Thomas

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly von Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes von Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G, Cilio, Maria Roberta, Kunz, Wolfram S, Krause, Roland, Zimprich, Fritz, Lemke, Johannes R, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A

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Investigation of GRIN2A in common epilepsy phenotypes von Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna-Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J, Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R

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