Poison exons in neurodevelopment and disease von Carvill, Gemma L, Mefford, Heather C

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Defining the phenotypic spectrum of SLC6A1 mutations von Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase von Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J Robert, Bassuk, Alexander G

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A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies von Happ, Hannah C., Carvill, Gemma L.

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures von Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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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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Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology von Carvill, Gemma L., Matheny, Tyler, Hesselberth, Jay, Demarest, Scott

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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis von Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C

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Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders von Cheng, Jennifer Z, Carvill, Gemma L

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Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2 -Associated Epilepsy von Lamar, Kay-Marie J, Carvill, Gemma L

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Mutations in KCNT1 cause a spectrum of focal epilepsies von Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

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Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E von Carvill, Gemma L.

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Parental Mosaicism in “De Novo” Epileptic Encephalopathies von Myers, Candace T, Hollingsworth, Georgina, Muir, Alison M, Schneider, Amy L, Thuesmunn, Zoe, Knupp, Allison, King, Chontelle, Lacroix, Amy, Mehaffey, Michele G, Berkovic, Samuel F, Carvill, Gemma L, Sadleir, Lynette G, Scheffer, Ingrid E, Mefford, Heather C

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures von Howell, Katherine B, McMahon, Jacinta M, Carvill, Gemma L, Tambunan, Dimira, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L, Calvert, Sophie, Olson, Heather E, Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C, Harvey, A Simon, Scheffer, Ingrid E

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Sensory impairments, intellectual disability and psychiatry von Carvill, S.

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement von LaFlamme, Christy W., Rastin, Cassandra, Sengupta, Soham, Pennington, Helen E., Russ-Hall, Sophie J., Schneider, Amy L., Bonkowski, Emily S., Almanza Fuerte, Edith P., Allan, Talia J., Zalusky, Miranda Perez-Galey, Goffena, Joy, Gibson, Sophia B., Nyaga, Denis M., Lieffering, Nico, Hebbar, Malavika, Walker, Emily V., Darnell, Daniel, Olsen, Scott R., Kolekar, Pandurang, Djekidel, Mohamed Nadhir, Rosikiewicz, Wojciech, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Relator, Raissa, Lev, Dorit, Lerman-Sagie, Tally, Park, Kristen L., Alders, Marielle, Cappuccio, Gerarda, Chatron, Nicolas, Demain, Leigh, Genevieve, David, Lesca, Gaetan, Roscioli, Tony, Sanlaville, Damien, Tedder, Matthew L., Gupta, Sachin, Jones, Elizabeth A., Weisz-Hubshman, Monika, Ketkar, Shamika, Dai, Hongzheng, Worley, Kim C., Rosenfeld, Jill A., Chao, Hsiao-Tuan, Neale, Geoffrey, Carvill, Gemma L., Wang, Zhaoming, Berkovic, Samuel F., Sadleir, Lynette G., Miller, Danny E., Scheffer, Ingrid E., Sadikovic, Bekim, Mefford, Heather C.

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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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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 von Carvill, Gemma L, Heavin, Sinéad B, Yendle, Simone C, McMahon, Jacinta M, O'Roak, Brian J, Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M E, Bleasel, Andrew, Howell, Katherine B, Kivity, Sara, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S, Gill, Deepak, Andrade, Danielle M, Freeman, Jeremy L, Sadleir, Lynette G, Shendure, Jay, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders von Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O'Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C

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Refining analyses of copy number variation identifies specific genes associated with developmental delay von Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E

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