Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Autor: Jacques L. Michaud, Jessica Sebastian, Hanrong Wu, Dick Lindhout, Karla Manzano-Vargas, Nuwan C. Hettige, Ingrid M. Wentzensen, Huashan Peng, Amy Crunk, Heika Silviera, Malvin Jefri, Henry Houlden, Fadi F. Hamdan, Zahia Aouabed, Stephanie Efthymiou, Xin Zhang, Renske Oegema, Arnaud Tanti, Jerry Vockley, Gustavo Turecki, Julien van Gils, Amber G. Begtrup, Christina Nassif, Gunnar Houge, Naomichi Matsumoto, Thomas Bourgeron, Jean-François Théroux, Emily Fassi, Noriko Miyake, Robert D. Nicholls, Jose E. Martinez, Kristin Herman, Lilit Antonyan, Philippe M. Campeau, Margaret G. Au, Dominic Nelson, Vincenzo Salpietro, Scott C. Bell, Pierre Priam, Joshua L. Deignan, Gregory M. Cooper, Rune Østern, Han G. Brunner, Dagmar Huhle, Amy Goldstein, John M. Graham, Christine Coubes, Koen L.I. van Gassen, Tabib Dabir, Maria Hafström, Simon Gravel, Sophie Ehresmann, Elsa Rossignol, Ilaria Kolobova, Walla Al-Hertani, Julie A. Lessard, Lionel Carmant, Sonja Martin, Richard Delorme, Carl Ernst, Jolien S. Klein Wassink-Ruiter, Naguib Mechawar, Yoshio Makita, Candice R. Finnila, Rami Abou Jamra, Anne Lortie, Justine Rousseau, Sarju G. Mehta, Lina Ghaloul-Gonzalez

Publikováno v: American Journal of Human Genetics, 104, 5, pp. 815-834
American Journal of Human Genetics, 104(5), 815. Cell Press
American Journal of Human Genetics, 104(5), 815-834. Cell Press
American Journal of Human Genetics, 104, 815-834
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 104(5), 815-834. CELL PRESS

International audience; We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd69a3db8e881fea7dc94ed364dafd6d
https://hdl.handle.net/2066/203584