Congenital Titinopathy: Comprehensive characterization and pathogenic insights von Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

Volltext

Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial von O'Callaghan, Finbar J K, Dr, Edwards, Stuart W, PhD, Alber, Fabienne Dietrich, MSc, Hancock, Eleanor, MD, Johnson, Anthony L, PhD, Kennedy, Colin R, Prof, Likeman, Marcus, FRCR, Lux, Andrew L, PhD, Mackay, Mark, PhD, Mallick, Andrew A, PhD, Newton, Richard W, MD, Nolan, Melinda, MBBS, Pressler, Ronit, PhD, Rating, Dietz, Prof, Schmitt, Bernhard, Prof, Verity, Christopher M, FRCPCH, Osborne, John P, Prof

Volltext

The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) von Osborne, John P., Edwards, Stuart W., Dietrich Alber, Fabienne, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., O'Callaghan, Finbar J. K.

Volltext

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency von Arsov, Todor, Mullen, Saul A., Damiano, John A., Lawrence, Kate M., Huh, Linda L., Nolan, Melinda, Young, Helen, Thouin, Anaïs, Dahl, Hans-Henrik M., Berkovic, Samuel F., Crompton, Douglas E., Sadleir, Lynette G., Scheffer, Ingrid E.

Volltext

Biallelic mutations in NRROS cause an early onset lethal microgliopathy von Smith, Colin, McColl, Barry W., Patir, Anirudh, Barrington, Jack, Armishaw, Jeremy, Clarke, Antonia, Eaton, Jenny, Hobbs, Vivienne, Mansour, Sahar, Nolan, Melinda, Rice, Gillian I., Rodero, Mathieu P., Seabra, Luis, Uggenti, Carolina, Livingston, John H., Bridges, Leslie R., Jeffrey, Iona J. M., Crow, Yanick J.

Volltext

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.

Volltext

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease von Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.

Volltext

Intelligence in childhood epilepsy syndromes von Nolan, Melinda A., Redoblado, M.Antoinette, Lah, Suncica, Sabaz, Mark, Lawson, John A., Cunningham, Anne M., Bleasel, Andrew F., Bye, Ann M.E.

Volltext

Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder von Nosadini, Margherita, Alper, Gulay, Riney, Catherine J., Benson, Leslie A., Mohammad, Shekeeb S., Ramanathan, Sudarshini, Nolan, Melinda, Appleton, Richard, Leventer, Richard J., Deiva, Kumaran, Brilot, Fabienne, Gorman, Mark P., Waldman, Amy T., Banwell, Brenda, Dale, Russell C.

Volltext

Recurrent Intractable Seizures in Children With Cortical Dysplasia Adjacent to Dysembryoplastic Neuroepithelial Tumor von Sakuta, Ryoichi, Otsubo, Hiroshi, Nolan, Melinda A., Weiss, Shelly K., Hawkins, Cynthia, Rutka, James T., Chuang, Nathaniel A., Chuang, Sylvester H., Snead, O. Carter

Volltext

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice von McKnight, Dianalee, Morales, Ana, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Freeman, Jeremy L, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Schatz, Krista, Kalika, Paige M, Plaza, Lautaro, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Smith, Douglas M, Massingham, Lauren J, Costin, Carrie E, Ostrander, Betsy, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Chernuha, Veronika, Meibos, Bailey, Sweney, Matthew T, Espinoza, A. Chris, Van Orman, Colin B, Weinstock, Arie, Kumar, Ashutosh, Nolan, Danielle A, Raza, Muhammad, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Guzmán, Guillermo G, Pavliuk, Mariia

Volltext

Evaluation of first unprovoked seizures in children by general paediatricians in New Zealand von Johnson, Rachel E, Nolan, Melinda A

Volltext

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial von Alber, Fabienne Dietrich, Johnson, Anthony L, Nolan, Melinda, Pressler, Ronit, Schmitt, Bernhard, Verity, Christopher M, Abdel Aziz, Maysara, Acharya, Triloknath, Jones, Robert, Marsh, Ben, Adejare, Kemi, Adiga, Rashmi, Ahmed, Mansoor, Sawal, Mohammad, Al-Kharusi, Asya, Al-Moasseb, Hassan, Atkinson, Patricia, Ayonrinde, Kunle, Bala, Pronab, Basheer, Nigel, Rittey, Chris, Borusiak, Peter, Cagnoli, Sabine, Calvert, Sophie, Chaniyil, Ramesh, Chinthapalli, Ravi, Chow, Gabriel, Whitehouse, William, de Goede, Christian, Basu, Helen, Della Marina, Adela, Dison, Penelope, Eaton, Megan, Ellison, Julie, Fallon, Penny, Ratnayaka, Mal, Warriner, Stephen, Garcia, Maria, Gibbs, John, Gupta, Rajesh, Harris, Siân, Eltze, Christin, Kaliakatsos, Marios, Murugan, Velayutham, Hindley, Daniel, Hussain, Nahin, Jacobs, Julia, Jones, Simon, Kennedy, Colin, Whitney, Andrea, Kneen, Rachel, Iyer, Anand, Kumar, Ramesh, Lewis, Helen, Lloyd Evans, Andrew, Maddicks, Hilary, Luecke, Thomas, MacKay, Mark, Freeman, Jeremy, Hayman, Michael, Ware, Tyson, Mancais, Penny, Marinaki, Katina, Massarano, Albert, Melville, Colin, Muhle, Hiltrud, Nagmeldin, Eisawi, Nelapatla, Suresh, Gondwe, Jailosi, Newton, Richard, Martland, Tim, Olabi, Anas, O'Neill, Kevin, Panzer, Axel, Theophil, Manuela, Smith, Martin, Parker, Alasdair, Chitre, Manali, Philip, Sunny, Pike, Mike, Pridmore, Clair, Krieg, Peter, Rifkin, Rob, Rowlandson, Piers, Sadleir, Lynette, O'Sullivan, Siobhan, Rao, Sudhakar, Schmitt, Bernhard, Schubert-Bast, Susanne, Scott, Fraser, Butterfill, Andrew, Shute, Pauline, Singh, Rajeeva, Allogoa, Brigid, Sivakumar, Puthuval, Smith, Robert, Sriskandan, Sivaranjini, Steinert, Martin, Strassburg, Michael, Subramanian, Geeta

Volltext

Retinal haemorrhage in a child with optic neuritis and acute disseminated encephalomyelitis von Kelly, Patrick, Vincent, Andrea, Nolan, Melinda, Bastin, Sonja

Volltext

Startle-induced seizures associated with infantile hemiplegia: implication of the supplementary motor area von Nolan, Melinda A, Otsubo, Hiroshi, Iida, Koji, Minassian, Berge A

Volltext

Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials von Osborne, John P., Edwards, Stuart W., Alber, Fabienne Dietrich, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., O'Callaghan, FinbarJ.K.

Volltext

The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) von Osborne, John P., Edwards, Stuart W., Dietrich Alber, Fabienne, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew, Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., O'Callaghan, Finbar J. K., on behalf of the participating investigators

Volltext

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 von Park, Julien H, Nordström, Ulrika, Tsiakas, Konstantinos, Keskin, Isil, Elpers, Christiane, Mannil, Manoj, Heller, Raoul, Nolan, Melinda, Alburaiky, Salam, Zetterström, Per, Hempel, Maja, Schara-Schmidt, Ulrike, Biskup, Saskia, Steinacker, Petra, Otto, Markus, Weishaupt, Jochen, Hahn, Andreas, Santer, René, Marquardt, Thorsten, Marklund, Stefan L, Andersen, Peter M

Volltext

Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial von Edwards, Stuart W., Alber, Fabienne Dietrich, Hancock, Eleanor, Johnson, Anthony L., Kennedy, Colin R., Likeman, Marcus, Lux, Andrew L., Mackay, Mark, Mallick, Andrew A., Newton, Richard W., Nolan, Melinda, Pressler, Ronit, Rating, Dietz, Schmitt, Bernhard, Verity, Christopher M., Osborne, John P.

Volltext

Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder von Nosadini, Margherita, Alper, Gulay, Riney, Catherine J, Benson, Leslie A, Mohammad, Shekeeb S, Ramanathan, Sudarshini, Nolan, Melinda, Appleton, Richard, Leventer, Richard J, Deiva, Kumaran, Brilot, Fabienne, Gorman, Mark P, Waldman, Amy T, Banwell, Brenda, Dale, Russell C

Volltext