Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

Autor: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zheng, Allison

Publikováno v: Epilepsia, vol 60, iss 3
Epilepsia
Volume 60
Issue 3

OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1b69e09098a81f728c426e3ae47d2d
https://escholarship.org/uc/item/5mv7d47m