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

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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)815-834
Number of pages20
JournalAmerican Journal of Human Genetics
Volume104
Issue number5
DOIs
Publication statusPublished - 2 May 2019

Keywords

  • CHROMATIN REMODELING COMPLEX
  • COFFIN-SIRIS SYNDROME
  • SYNAPTIC PLASTICITY
  • PROTEIN EXPRESSION
  • SWI/SNF COMPLEX
  • MEMORY
  • GENE
  • OLIGODENDROCYTE
  • TRANSCRIPTION
  • DISORDERS

Cite this

Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J-F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., ... Campeau, P. M. (2019). Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics, 104(5), 815-834. https://doi.org/10.1016/j.ajhg.2019.03.022