Universität zu Köln

Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, 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, V, 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 G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, 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 and Zheng, Allison (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia, 60 (3). S. 406 - 419. HOBOKEN: WILEY. ISSN 1528-1167

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Abstract

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 potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. Results The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes. <

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kelly, McKenna UNSPECIFIED UNSPECIFIED UNSPECIFIED Park, Meredith UNSPECIFIED UNSPECIFIED UNSPECIFIED Mihalek, Ivana UNSPECIFIED UNSPECIFIED UNSPECIFIED Rochtus, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Gramm, Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Perez-Palma, Eduardo UNSPECIFIED orcid.org/0000-0003-0546-5141 UNSPECIFIED Axeen, Erika Takle UNSPECIFIED UNSPECIFIED UNSPECIFIED Hung, Christina Y. UNSPECIFIED UNSPECIFIED UNSPECIFIED Olson, Heather UNSPECIFIED UNSPECIFIED UNSPECIFIED Swanson, Lindsay UNSPECIFIED UNSPECIFIED UNSPECIFIED Anselm, Irina UNSPECIFIED UNSPECIFIED UNSPECIFIED Briere, Lauren C. UNSPECIFIED UNSPECIFIED UNSPECIFIED High, Frances A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sweetser, David A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kayani, Saima UNSPECIFIED UNSPECIFIED UNSPECIFIED Snyder, Molly UNSPECIFIED UNSPECIFIED UNSPECIFIED Calvert, Sophie UNSPECIFIED UNSPECIFIED UNSPECIFIED Scheffer, Ingrid E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yang, Edward UNSPECIFIED UNSPECIFIED UNSPECIFIED Waugh, Jeff L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Bodamer, Olaf UNSPECIFIED UNSPECIFIED UNSPECIFIED Poduri, Annapurna UNSPECIFIED UNSPECIFIED UNSPECIFIED Adams, David R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Aday, Aaron UNSPECIFIED UNSPECIFIED UNSPECIFIED Alejandro, Mercedes E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Allard, Patrick UNSPECIFIED UNSPECIFIED UNSPECIFIED Ashley, Euan A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Azamian, Mahshid S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bacino, Carlos A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Baker, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Balasubramanyam, Ashok UNSPECIFIED UNSPECIFIED UNSPECIFIED Barseghyan, Hayk UNSPECIFIED UNSPECIFIED UNSPECIFIED Batzli, Gabriel F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Beggs, Alan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Behnam, Babak UNSPECIFIED UNSPECIFIED UNSPECIFIED Bellen, Hugo J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bernstein, Jonathan A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bican, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Bick, David P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Birch, Camille L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bonner, Devon UNSPECIFIED UNSPECIFIED UNSPECIFIED Boone, Braden E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bostwick, Bret L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brokamp, Elly UNSPECIFIED UNSPECIFIED UNSPECIFIED Brown, Donna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brush, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Burke, Elizabeth A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Burrage, Lindsay C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Butte, Manish J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Chen, Shan UNSPECIFIED UNSPECIFIED UNSPECIFIED Clark, Gary D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Coakley, Terra R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cogan, Joy D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Colley, Heather A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cooper, Cynthia M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cope, Heidi UNSPECIFIED UNSPECIFIED UNSPECIFIED Craigen, William J. UNSPECIFIED UNSPECIFIED UNSPECIFIED D'Souza, Precilla UNSPECIFIED UNSPECIFIED UNSPECIFIED Davids, Mariska UNSPECIFIED UNSPECIFIED UNSPECIFIED Davidson, Jean M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dayal, Jyoti G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dell'Angelica, Esteban C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dhar, Shweta U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dipple, Katrina M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Donnell-Fink, Laurel A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dorrani, Naghmeh UNSPECIFIED UNSPECIFIED UNSPECIFIED Dorset, Daniel C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Douine, Emilie D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Draper, David D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dries, Annika M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eckstein, David J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Emrick, Lisa T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eng, Christine M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Enns, Gre-Gory M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eskin, Ascia UNSPECIFIED UNSPECIFIED UNSPECIFIED Esteves, Cecilia UNSPECIFIED UNSPECIFIED UNSPECIFIED Estwick, Tyra UNSPECIFIED UNSPECIFIED UNSPECIFIED Fairbrother, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Fernandez, Liliana UNSPECIFIED UNSPECIFIED UNSPECIFIED Ferreira, Carlos UNSPECIFIED UNSPECIFIED UNSPECIFIED Fieg, Elizabeth L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fisher, Paul G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fogel, Brent L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Friedman, Noah D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gahl, William A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Glanton, Emily UNSPECIFIED UNSPECIFIED UNSPECIFIED Godfrey, Rena A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goldman, Alica M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goldstein, David B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gould, Sarah E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gourdine, Jean-Philippe F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Groden, Catherine A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gropman, Andrea L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Haendel, Melissa UNSPECIFIED UNSPECIFIED UNSPECIFIED Hamid, Rizwan UNSPECIFIED UNSPECIFIED UNSPECIFIED Hanchard, Neil A. UNSPECIFIED UNSPECIFIED UNSPECIFIED High, Francis UNSPECIFIED UNSPECIFIED UNSPECIFIED Holm, Ingrid A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Horn, Jason UNSPECIFIED UNSPECIFIED UNSPECIFIED Howerton, Ellen M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Yong UNSPECIFIED UNSPECIFIED UNSPECIFIED Jamal, Fariha UNSPECIFIED UNSPECIFIED UNSPECIFIED Jiang, Yong-hui UNSPECIFIED UNSPECIFIED UNSPECIFIED Johnston, Jean M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jones, Angela L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Karaviti, Lefkothea UNSPECIFIED UNSPECIFIED UNSPECIFIED Koeller, David M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohane, Isaac S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohler, Jennefer N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Konick, Susan UNSPECIFIED UNSPECIFIED UNSPECIFIED Koziura, Mary UNSPECIFIED UNSPECIFIED UNSPECIFIED Krasnewich, Donna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Krier, Joel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kyle, Jennifer E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lalani, Seema R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lau, C. Christopher UNSPECIFIED UNSPECIFIED UNSPECIFIED Lazar, Jozef UNSPECIFIED UNSPECIFIED UNSPECIFIED LeBlanc, Kimberly UNSPECIFIED UNSPECIFIED UNSPECIFIED Lee, Brendan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lee, Hane UNSPECIFIED UNSPECIFIED UNSPECIFIED Levy, Shawn E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lewis, Richard A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lincoln, Sharyn A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Loo, Sandra K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Loscalzo, Joseph UNSPECIFIED UNSPECIFIED UNSPECIFIED Maas, Richard L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Macnamara, Ellen F. UNSPECIFIED UNSPECIFIED UNSPECIFIED MacRae, Calum A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Maduro, Valerie V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Majch-erska, Marta M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Malicdan, May Christine, V UNSPECIFIED UNSPECIFIED UNSPECIFIED Mamounas, Laura A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Manolio, Teri A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Markello, Thomas C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Marom, Ronit UNSPECIFIED UNSPECIFIED UNSPECIFIED Martin, Martin G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Martinez-Agosto, Julian A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mar-waha, Shruti UNSPECIFIED UNSPECIFIED UNSPECIFIED May, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED McConkie-Rosell, Allyn UNSPECIFIED UNSPECIFIED UNSPECIFIED McCormack, Colleen E. UNSPECIFIED UNSPECIFIED UNSPECIFIED McCray, Alexa F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Merker, Jason D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Metz, Thomas O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Might, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Moretti, Paolo M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Morimoto, Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Mulvihill, John J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Murdock, David R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Murphy, Jennifer L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Muzny, Donna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nehrebecky, Michele E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nelson, Stan F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Newberry, J. Scott UNSPECIFIED UNSPECIFIED UNSPECIFIED Newman, John H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nicholas, Sarah K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Novacic, Donna UNSPECIFIED UNSPECIFIED UNSPECIFIED Orange, Jordan S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Orengo, James P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pallais, J. Carl UNSPECIFIED UNSPECIFIED UNSPECIFIED Palmer, Christina G. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Papp, Jeanette C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parker, Neil H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pena, Loren D. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, John A., III UNSPECIFIED UNSPECIFIED UNSPECIFIED Posey, Jennifer E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Postlethwait, John H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Potocki, Lorraine UNSPECIFIED UNSPECIFIED UNSPECIFIED Pusey, Barbara N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Reuter, Chloe M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rives, Lynette UNSPECIFIED UNSPECIFIED UNSPECIFIED Robertson, Amy K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rodan, Lance H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenfeld, Jill A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sampson, Jacinda B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Samson, Susan L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoch, Kelly UNSPECIFIED UNSPECIFIED UNSPECIFIED Scott, Daryl A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Shakachite, Lisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Sharma, Prashant UNSPECIFIED UNSPECIFIED UNSPECIFIED Shashi, Vandana UNSPECIFIED UNSPECIFIED UNSPECIFIED Signer, Rebecca UNSPECIFIED UNSPECIFIED UNSPECIFIED Silverman, Edwin K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sinsheimer, Janet S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Smith, Kevin S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Spillmann, Rebecca C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stoler, Joan M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stong, Nicholas UNSPECIFIED UNSPECIFIED UNSPECIFIED Sullivan, Jennifer A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tan, Queenie K-G UNSPECIFIED UNSPECIFIED UNSPECIFIED Tifft, Cynthia J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Toro, Camilo UNSPECIFIED UNSPECIFIED UNSPECIFIED Tran, Alyssa A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Urv, Tiina K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Vilain, Eric UNSPECIFIED UNSPECIFIED UNSPECIFIED Vogel, Tiphanie P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Waggott, Daryl M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wahl, Colleen E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Walker, Melissa UNSPECIFIED UNSPECIFIED UNSPECIFIED Walley, Nicole M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Walsh, Chris A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wan, Jijun UNSPECIFIED UNSPECIFIED UNSPECIFIED Wangler, Michael F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ward, Patricia A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Waters, Katrina M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Webb-Robertson, Bobbie-Jo M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Westerfield, Monte UNSPECIFIED UNSPECIFIED UNSPECIFIED Wheeler, Matthew T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wise, Anastasia L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolfe, Lynne A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Worthey, Elizabeth A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yamamoto, Shinya UNSPECIFIED UNSPECIFIED UNSPECIFIED Yang, Yaping UNSPECIFIED UNSPECIFIED UNSPECIFIED Yoon, Amanda J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yu, Guoyun UNSPECIFIED UNSPECIFIED UNSPECIFIED Zastrow, Diane B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhao, Chunli UNSPECIFIED UNSPECIFIED UNSPECIFIED Zheng, Allison UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-155588
DOI:	10.1111/epi.14653
Journal or Publication Title:	Epilepsia
Volume:	60
Number:	3
Page Range:	S. 406 - 419
Date:	2019
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1528-1167
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DE-NOVO MUTATIONS; EPILEPTIC ENCEPHALOPATHY; MOVEMENT-DISORDER; PHENOTYPE; VARIANT; G-ALPHA(O); MODEL Multiple languages Clinical Neurology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15558