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

• 期刊名称The American Journal of Human Genetics
• 作者Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Østern, Rune; Houge, Gunnar; Hafström, Maria; Fassi, Emily; Houlden, Henry; Klein Wassink-Ruiter, Jolien S.; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M.
• 印刷ISSN0002-9297
• 文件大小4682.18KB
• 发表时间2019-4
• DOI10.1016/j.ajhg.2019.03.022