未登录 Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M., Jr.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F. 分享 收藏
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition 功能和临床研究揭示了CLCN4-related神经发育状况的病理生理复杂性 Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. 分享 收藏
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations 不同基因的体细胞变异导致一系列局灶性皮质畸形 Lai, Dulcie; Gade, Meethila; Yang, Edward; Koh, Hyun Yong; Lu, Jinfeng; Walley, Nicole M.; Buckley, Anne F.; Sands, Tristan T.; Akman, Cigdem, I; Mikati, Mohamad A.; McKhann, Guy M.; Goldman, James E.; Canoll, Peter; Alexander, Allyson L.; Park, Kristen L.; Von Allmen, Gretchen K.; Rodziyevska, Olga; Bhattacharjee, Meenakshi B.; Lidov, Hart G. W.; Vogel, Hannes; Grant, Gerald A.; Porter, Brenda E.; Poduri, Annapurna H.; Crino, Peter B.; Heinzen, Erin L. 分享 收藏
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Convolutional neural network-aided tuber segmentation in tuberous sclerosis complex patients correlates with electroencephalogram Park, David K.; Kim, Woojoong; Thornburg, Olivia S.; McBrian, Danielle K.; McKhann, Guy M.; Feldstein, Neil A.; Maddocks, Alexis B.; Gonzalez, Elena; Shen, Min Y.; Akman, Cigdem; Provenzano, Frank A. 分享 收藏
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity CSNK2B: 广泛的神经发育障碍和癫痫严重程度 Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; Lyons, Michael J.; Lee, Jennifer A.; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M. S.; Madan-Khetarpal, Suneeta; Infante, Elena M.; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W.; Schultz-Rogers, Laura E.; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S.; Ferber, Matthew J.; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra; Ruivenkamp, Claudia; White, Susan M.; Pais, Lynn; Monaghan, Kristin G.; Goldstein, David B.; Sands, Tristan T.; Aggarwal, Vimla 分享 收藏
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder Mirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A.; Sajan, Samin A.; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Thiel, Christian T.; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S.; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Genevieve, David; Simon, Marleen E. H.; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E.; Akman, Cigdem I.; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W.; Mattioli, Francesca; Guyader, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G.; Nickerson, Deborah A.; van Binsbergen, Ellen; Enns, Gregory M.; Dries, Annika M.; Rowe, Leah J.; Tsai, Anne C. H.; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H.; Martinez-Agosto, Julian; Ockeloen, Charlotte W.; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J. 分享 收藏
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses Addis, Laura; Sproviero, William; Thomas, Sanjeev, V; Caraballo, Roberto H.; Newhouse, Stephen; Gomez, Kumudini; Hughes, Elaine; Kinali, Maria; McCormick, David; Hannan, Siobhan; Cossu, Silvia; Taylor, Jacqueline; Akman, Cigdem, I; Wolf, Steven M.; Mandelbaum, David E.; Gupta, Rajesh; van der Spek, Rick A.; Pruna, Dario; Pal, Deb K. 分享 收藏
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy Winawer, Melodie R.; Griffin, Nicole G.; Samanamud, Jorge; Baugh, Evan H.; Rathakrishnan, Dinesh; Ramalingam, Senthilmurugan; Zagzag, David; Schevon, Catherine A.; Dugan, Patricia; Hegde, Manu; Sheth, Sameer A.; McKhann, Guy M.; Doyle, Werner K.; Grant, Gerald A.; Porter, Brenda E.; Mikati, Mohamad A.; Muh, Carrie R.; Malone, Colin D.; Bergin, Ann Marie R.; Peters, Jurriaan M.; McBrian, Danielle K.; Pack, Alison M.; Akman, Cigdem I.; LaCoursiere, Christopher M.; Keever, Katherine M.; Madsen, Joseph R.; Yang, Edward; Lidov, Hart G. W.; Shain, Catherine; Allen, Andrew S.; Canoll, Peter D.; Crino, Peter B.; Poduri, Annapurna H.; Heinzen, Erin L. 分享 收藏
Early Recurrence of First Unprovoked Seizures in Children Goldberg, Leah R.; Kernie, Catherine G.; Lillis, Kathleen; Bennett, Jonathan; Conners, Gregory; Macias, Charles G.; Callahan, James; Akman, Cigdem; Hauser, W. Allen; Kuppermann, Nathan; Dayan, Peter S. 分享 收藏
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy Panjwani, Naim; Wilson, Michael D.; Addis, Laura; Crosbie, Jennifer; Wirrell, Elaine; Auvin, Stephane; Caraballo, Roberto H.; Kinali, Maria; McCormick, David; Oren, Caroline; Taylor, Jacqueline; Trounce, John; Clarke, Tara; Akman, Cigdem I.; Kugler, Steven L.; Mandelbaum, David E.; McGoldrick, Patricia; Wolf, Steven M.; Arnold, Paul; Schachar, Russell; Pal, Deb K.; Strug, Lisa J. 分享 收藏
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Prevalence of and Risk Factors for Intracranial Abnormalities in Unprovoked Seizures Dayan, Peter S.; Lillis, Kathleen; Bennett, Jonathan; Conners, Gregory; Bailey, Pam; Callahan, James; Akman, Cigdem; Feldstein, Neil; Kriger, Joshua; Hauser, W. Allen a; Kuppermann, Nathan 分享 收藏
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems Ramocki, Melissa B.; Bartnik, Magdalena; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Xia, Zhilian; Bravo, Jaclyn; Miller, G. Steve; Rodriguez, Diana L.; Williams, Charles A.; Bader, Patricia I.; Szczepanik, Elzbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G.; Akman, Cigdem I.; McAlmon, Karen; Cohen, Melinda P.; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L.; Bacino, Carlos A.; Patel, Ankita; Bocian, Ewa; Shaw, Chad A.; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Pawel 分享 收藏
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