De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Article

International Collaboration

Liang, Lina; Li, Xia; Moutton, Sebastien; Vergano, Samantha A. Schrier; Cogne, Benjamin; Saint-Martin, de Anne; Hurst, Anna C. E.; Hu, Yushuang; Bodamer, Olaf; Thevenon, Julien; Hung, Christina Y.; Isidor, Bertrand; Gerard, Benedicte; Rega, Adelaide; Nambot, Sophie; Lehalle, Daphne; Duffourd, Yannis; Thauvin-Robinet, Christel; Faivre, Laurence; Bezieau, Stephane; Dure, Leon S.; Helbling, Daniel C.; Bick, David; Xu, Chengqi; Chen, Qiuyun; Mancini, Grazia M. S.; Vitobello, Antonio; Wang, Qing Kenneth