Assessing the landscape of STXBP1-related disorders in 534 individuals von Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1 von Thalwitzer, Kim M, Driedger, Jan H, Xian, Julie, Saffari, Afshin, Zacher, Pia, Bölsterli, Bigna K, McKeown Ruggiero, Sarah, Sullivan, Katie Rose, Datta, Alexandre N, Kellinghaus, Christoph, Althaus, Jürgen, Wiemer-Kruel, Adelheid, van Baalen, Andreas, Pampel, Armin, Alber, Michael, Braakman, Hilde M H, Debus, Otfried M, Denecke, Jonas, Hobbiebrunken, Elke, Breitweg, Ina, Diehl, Danielle, Eitel, Hans, Gburek-Augustat, Janina, Preisel, Martin, Schlump, Jan-Ulrich, Laufs, Mirjam, Mammadova, Dilbar, Wurst, Carsten, Prager, Christine, Löhr-Nilles, Christa, Martin, Peter, Garbade, Sven F, Platzer, Konrad, Benkel-Herrenbrueck, Ira, Egler, Kerstin, Fazeli, Walid, Lemke, Johannes R, Runkel, Eva, Klein, Barbara, Linden, Tobias, Schröter, Julian, Steffeck, Heike, Thies, Bastian, von Deimling, Florian, Illsinger, Sabine, Borggraefe, Ingo, Classen, Georg, Wieczorek, Dagmar, Ramantani, Georgia, Koelker, Stefan, Hoffmann, Georg F., Ries, Markus, Helbig, Ingo, Syrbe, Steffen

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Delineating clinical and developmental outcomes in STXBP1-related disorders von Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C, deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R, Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Benjamin, Fitter, Nasha, Ruggiero, Sarah M, Helbig, Ingo

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The clinical and genetic spectrum of paediatric speech and language disorders von Magielski, Jan H, Ruggiero, Sarah M, Xian, Julie, Parthasarathy, Shridhar, Galer, Peter D, Ganesan, Shiva, Back, Amanda, McKee, Jillian L, McSalley, Ian, Gonzalez, Alexander K, Morgan, Angela, Donaher, Joseph, Helbig, Ingo

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Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood von Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah

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Early life seizures and epileptic spasms in STXBP1‐related disorders von Thalwitzer, Kim M., Xian, Julie, Campo, Danielle, Parthasarathy, Shridhar, Magielski, Jan, Sullivan, Katie R., Goss, James, Rigby, Charlene Son, Boland, Michael, Prosser, Ben, Ruggiero, Sarah M., Syrbe, Steffen, Helbig, Ingo

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Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus von deCampo, Danielle, Xian, Julie, Karlin, Alexis, Sullivan, Katie R, Ruggiero, Sarah M, Galer, Peter, Ramos, Mark, Abend, Nicholas S, Gonzalez, Alex, Helbig, Ingo

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders von Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism von Parthasarathy, Shridhar, Ruggiero, Sarah McKeown, Gelot, Antoinette, Soardi, Fernanda C, Ribeiro, Bethânia F R, Pires, Douglas E V, Ascher, David B, Schmitt, Alain, Rambaud, Caroline, Represa, Alfonso, Xie, Hongbo M, Lusk, Laina, Wilmarth, Olivia, McDonnell, Pamela Pojomovsky, Juarez, Olivia A, Grace, Alexandra N, Buratti, Julien, Mignot, Cyril, Gras, Domitille, Nava, Caroline, Pierce, Samuel R, Keren, Boris, Kennedy, Benjamin C, Pena, Sergio D J, Helbig, Ingo, Cuddapah, Vishnu Anand

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Molecular and Phenotypic Characterization of the RORB -Related Disorder von Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, Jr, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan

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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals von Galer, Peter D., Parthasarathy, Shridhar, Xian, Julie, McKee, Jillian L., Ruggiero, Sarah M., Ganesan, Shiva, Kaufman, Michael C., Cohen, Stacey R., Haag, Scott, Chen, Chen, Ojemann, William K.S., Kim, Dan, Wilmarth, Olivia, Vaidiswaran, Priya, Sederman, Casey, Ellis, Colin A., Gonzalez, Alexander K., Boßelmann, Christian M., Lal, Dennis, Sederman, Rob, Lewis-Smith, David, Litt, Brian, Helbig, Ingo

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Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons von Camp, Chad R., Vlachos, Anna, Klöckner, Chiara, Krey, Ilona, Banke, Tue G., Shariatzadeh, Nima, Ruggiero, Sarah M., Galer, Peter, Park, Kristen L., Caccavano, Adam, Kimmel, Sarah, Yuan, Xiaoqing, Yuan, Hongjie, Helbig, Ingo, Benke, Tim A., Lemke, Johannes R., Pelkey, Kenneth A., McBain, Chris J., Traynelis, Stephen F.

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A disease concept model for STXBP1‐related disorders von Sullivan, Katie R., Ruggiero, Sarah M., Xian, Julie, Thalwitzer, Kim M., Ali, Rahma, Stewart, Sydni, Cosico, Mahgenn, Steinberg, Jackie, Goss, James, Pfalzer, Anna C., Horning, Kyle J., Weitzel, Nicole, Corey, Sydney, Conway, Laura, Rigby, Charlene Son, Bichell, Terry Jo, Helbig, Ingo

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Expanding Genetic Counselor Roles: A Model for Global Research Development von Muraresku, Colleen C, McCormick, Elizabeth M, Rockart, Lydia, Blaine Crowley, T, Asher, Stephanie, Back, Amanda, Baldino, Sarah M, Bedoukian, Emma, Britt, Allison D, Burrill, Natalie, Cacioppo, Cara, Clark, Dana Farengo, Clark, Mary Egan, Conway, Laura, Dratch, Laynie, Dubbs, Holly A, Engelhardt, Nicole M, Ginn, Natalie, Gray, Christopher, Hartman, Tiff, Hathaway, Evan R, Helbig, Katherine L, Hoffman-Andrews, Lily, Kasperski, Stefanie, Keena, Beth A, Keller, Kierstin N, Long, Jessica M, Lulis, Lauren, Lusk, Laina, McGinn, Daniel E, Mueller, Rebecca, Paul, Rache A, Pilchman, Lisa, Powers, Jacquelyn, Raible, Sarah E, Reichert, Sara, Rippert, Alyssa L, Arnold, Angela G, Ruggiero, Sarah M, Schindewolf, Erica, Sullivan, Katie Rose, Terek, Shannon, Wang, Bekah, Wells, McKenzie, Wisniewski, Natalia, Wright, Renee, Wood, Elisabeth McCarty, Woyciechowski, Stacy, Zelley, Kristin, Valverde, Kathleen D, McDonald-McGinn, Donna M

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Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance von Hopkins, Christopher E., McCormick, Kathryn, Brock, Trisha, Wood, Matthew, Ruggiero, Sarah, Mcbride, Kolt, Kim, Christine, Lawson, Jennifer A., Helbig, Ingo, Bainbridge, Matthew N.

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Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm von Karlin, Alexis, Ruggiero, Sarah, Fitzgerald, Mark

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Diagnostic Yield of Genetic Testing in Adults with Epilepsy (P7-1.010) von Copeland, Juliette, Baldwin, Aaron, Raper, Anna, Helbig, Katherine, Sullivan, Katie Rose, Ginn, Natalie, Ruggiero, Sarah, Lusk, Laina, Cohen, Stacey, Back, Amanda, Fitzgerald, Mark, Massey, Shavonne, McDonnell, Pamela, Goldberg, Ethan, Helbig, Ingo, Ellis, Colin

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Assessing the Clinical and Treatment Landscape of Genetic Epilepsies Through 3,760 Individuals (S24.007) von Xian, Julie, Kaufman, Michael, Ruggiero, Sarah, Ramos, Mark, Gonzalez, Alexander, Back, Amanda, Bailey-medley, Lea, Cohen, Stacey, Cuddapah, Vishnu, Ellis, Colin, Ginn, Natalie, Lewin, Naomi, Lusk, Laina, Marsh, Eric, Massey, Shavonne, Ortiz-Gonzalez, Xilma, Mcdonnell, Pamela, Sullivan, Katie Rose, Taub, Katherine, Tefft, Sarah, Helbig, Katherine, Goldberg, Ethan, Helbig, Ingo, Fitzgerald, Mark

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Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome von Alves, Cesar Augusto P.F., Clifford, Simon M., McKeown Ruggiero, Sarah, Helbig, Ingo, Chadehumbe, Madeline, Shekdar, Karuna

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Molecular and Phenotypic Characterization of the RORB-Related Disorder von Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina

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