Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Autor: Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier

Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology

Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650069807d3481a3152165d118ab744f
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Autor: Jennifer Tarpinian, Alberto Fernández-Jaén, Deborah A. Nickerson, Michael J. Bamshad, Kosuke Izumi, Giovanni Battista Ferrero, Emma Bedoukian, Marcello Niceta, Brendan Lee, A. Micheil Innes, Yuri A. Zarate, Katherine A. Bosanko, Annie Laquerrière, Jennifer A. Bassetti, David Mowat, Beth Keena, Carolina Galaz-Montoya, Claudia Gonzaga-Jauregui, Boris Keren, Reid Sutton, Elaine H. Zackai, James R. Lupski, Constance F. Wells, Francesca Clementina Radio, Natalie Hauser, Dong Li, Grace U Ediae, Marco Tartaglia, Xiang-Jiao Yang, Para Chottil Soumya, Elizabeth J. Bhoj, Christine Coubes, Kinattinkara R. Subbaraman, Alain Verloes, Klaus Dieterich, John C. Carey, Mary K. Kukolich, Francisco Cammarata-Scalisi, Alper Gezdirici, Jessica X. Chong, Sirinart Molidperee, Amelle Shillington, Sarah L. Sawyer, David S. Liu, Ana Bracho, Li Xin Zhang, Richard A. Gibbs, Sheela Nampoothiri, Ingrid A. Holm, Philip M. Boone, Alyssa Ritter, Charlotte Dubucs, Philippe M. Campeau, Gabrielle Lemire, Maria Lisa Dentici, Jacqueline Aziza, Frank J. Probst, Karippoth Mohandas Nair, Millan S. Patel, Chester W. Brown

Publikováno v: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genet Med

Purpose :Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being reco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde38b83a56781321203d0daead97aba
http://hdl.handle.net/11268/10899

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Autor: Jill A. Rosenfeld, Mir Reza Bekheirnia, Ian D. Krantz, Suneeta Madan-Khetarpal, Angela E. Scheuerle, Dolores J. Lamb, David Rodriguez-Buritica, Nasim Bekheirnia, Aisha Al Shamsi, Yaping Yang, Ghayda M. Mirzaa, Yuxiao Xu, Rachel K. Miller, Mauricio R. Delgado, Patricia G. Wheeler, Matthew N. Bainbridge, Natalia Gomez-Ospina, Helen Rankin Willsey, Mark E. Corkins, Alexandria T.M. Blackburn, Lihadh Al-Gazali, Michael C. Braun, Pengfei Liu, Vanessa C. Uma, Mary K. Kukolich, Louanne Hudgins, Hsiao-Tuan Chao, Fernando Scaglia, Christine M. Eng

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants. Methods: A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c0dc519f0fb5067a8fc4735559d11c
https://pubmed.ncbi.nlm.nih.gov/31857706

Am J Hum Genet

Autor: Robert Smigiel, Géraldine Joly-Helas, Linyan Meng, Gregory M. Cooper, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Bruno Kieffer, Christopher T. Gordon, Laurence Faivre, Rhonda E. Schnur, Sarah L. Dugan, Seema R. Lalani, Heather C Mefford, Susan M. Hiatt, Marlène Rio, Seiamak Bahram, Jamel Chelly, Caroline Schluth-Bolard, Tatiana Tvrdik, Alison M. Muir, Eva Erdmann, Aline Kolmer, Aurore Garde, Angélique Pichot, Raphael Carapito, Mary K. Kukolich, Andrea M. Lewis, David Hunt, Clémantine Dimartino, Aurore Morlon, Anne Molitor, Ingrid M. Wentzensen, Fabien Dutreux, Nicodème Paul, Carlos A. Bacino, Nina B. Gold, Frédéric Tran Mau-Them, Olaf Bodamer, Deciphering Developmental Disorders Study, Zijie Sun, Pinar Bayrak-Toydemir, Heather P. Crawford, Victoria Harrison, Jocelyn Céraline, Jeanne Amiel, Mira Kharbanda, Christina Hung, A. Hanauer, Anne-Marie Guerrot, David Viskochil, Bertrand Isidor, Maya Chopra, Kirsty McWalter, Lydie Naegely, Meredith Phillips, Xia Wang, Rafał Płoski, Noel Mensah-Bonsu, Ekaterina L. Ivanova, Magalie S. Leduc

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩

ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce89018be6a7579f0f2e0f77c8b7d7

NBEA : developmental disease gene with early generalized epilepsy phenotypes

Autor: Hermine E. Veenstra-Knol, Rolph Pfundt, Nada Houcinat, Gregory M. Cooper, James J. Riviello, Frédéric Bilan, Servi J. C. Stevens, Susan M. Hiatt, Mary K. Kukolich, Anna Lehman, Brigitte Gilbert-Dussardier, Cédric Le Caignec, Christian Korff, Catharina M L Volker-Touw, Eva H. Brilstra, Louise Bier, Alexander P.A. Stegmann, Evan H. Baugh, Berten Ceulemans, David Goldstein, Magalie Barth, Heather C. Mefford, Elaine Pereira, Han G. Brunner, Lot Snijders Blok, E. Lopez-Rangel, Rob P.W. Rouhl, Anya Revah-Politi, Bertrand Isidor, Mathilde Pacault, Constance T. R. M. Stumpel, E. Martina Bebin, Dana Craiu, Aida Telegrafi, Marlies Kempers, Jolien Roovers, Erin L. Heinzen, Candace T. Meyers, D Barca, Tania Djémié, Nicholas Stong, Zsuzsanna Siegler, Maureen S. Mulhern, Johannes R. Lemke, Tristan T. Sands, Natalie Lippa, Nicolette S. den Hollander, Danielle McBrian, Ellen van Binsbergen, Sarah Weckhuysen, Mariëtte J.V. Hoffer

Publikováno v: Annals of neurology
Annals of Neurology, 84(5), 788. John Wiley and Sons Inc.
Annals of Neurology, 84(5), 788-795. Wiley
Annals of Neurology, Vol. 84, No 5 (2018) pp. 788-795
Annals of Neurology, 84, 5, pp. 788-795
Annals of Neurology
Annals of Neurology, Wiley, 2018, 84 (5), pp.788-795. ⟨10.1002/ana.25350⟩
Annals of Neurology, 84, 788-795

NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ea9504c8445367128367c7329fc421
https://hdl.handle.net/10067/1554400151162165141