De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
在患有智力障碍、发育倒退和社会认知缺陷但无癫痫发作的患者中发现了 CACNA1E 的新生变异
期刊:Molecular Autism
影响因子:5.5
doi:10.1186/s13229-021-00473-3
Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A; Bassetti, Jennifer A; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C; Allen, Jake; Emrick, Lisa T; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J; Umair, Muhammad; Li, Dong; Donald, Kirsten A; Superti-Furga, Andrea