De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Lina Liang(Huazhong University of Science and Technology), Qing K. Wang(Cleveland Clinic), Chengqi Xu(Huazhong University of Science and Technology), Christina Hung(Boston Children's Hospital), Christel Thauvin‐Robinet(Hôpital d'Enfants), Laurence Faivre(Inserm), Daphné Lehalle(CHU Dijon Bourgogne), Samantha A. Schrier Vergano(Children's Hospital of The King's Daughters), Julien Thévenon(Centre National de la Recherche Scientifique), Daniel Helbling(Medical College of Wisconsin), David Bick(Medical College of Wisconsin), Leon Dure(University of Alabama at Birmingham), Antonio Vitobello(Inserm), Anne de Saint Martin(Epilepsy Foundation), Bertrand Isidor(Centre National de la Recherche Scientifique), A. Rega, Sébastien Moutton(Maison des Sciences sociales et des Humanités de Dijon), Sophie Nambot(Université de Bourgogne), Olaf A. Bodamer(Broad Institute), Stéphane Bezieau(Centre Hospitalier Universitaire de Nantes), Xia Li(Ankang University), Qiuyun Chen(Cleveland Clinic Lerner College of Medicine), Anna Hurst(University of Alabama at Birmingham), Yannis Duffourd(CHU Dijon Bourgogne), Benjamin Cogné(Centre National de la Recherche Scientifique), Grazia M.S. Mancini(Erasmus MC), Bénédicte Gérard(Hôpital Civil, Strasbourg), Yushuang Hu(Huazhong University of Science and Technology)
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