De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
Béryl Royer‐Bertrand(University Hospital of Lausanne), Andrea Superti‐Furga(University of Lausanne), Camille Kumps(University of Lausanne), Oana Moldovan(Hospital de Santa Maria), Beth Keena(Children's Hospital of Philadelphia), Sébastien Lebon(Children's Hospital of Philadelphia), Emma Eastman(University of Cape Town), Lindsay C. Burrage(Baylor College of Medicine), Safdar Abbas(Dartmouth College), Katarina Cisarova(University of Lausanne), Marine Jequier Gygax(University of Lausanne), Géraldine Van Winckel(University of Lausanne), Jill A. Rosenfeld(Baylor College of Medicine), Nadia Chabane(University of Lausanne), Emily O’Heir(MACOM (United States)), Kirsten A. Donald(University of Cape Town), Lisa Emrick(Baylor College of Medicine), Elizabeth Bhoj(Children's Hospital of Philadelphia), Dong Li(Children's Hospital of Philadelphia), Muhammad Umair(King Saud bin Abdulaziz University for Health Sciences), Jennifer A. Bassetti(Cornell University), Jake Allen(Broad Institute), Elaine H. Zackai(Children's Hospital of Philadelphia)
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