Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis
Andrew C. Liu, Yang Shen, Destino Roman, Hongzhi He, Carolyn R. Serbinski, Lindsey Aschbacher‐Smith, Katherine A. King, Jorge Luis Granadillo, Isabel López, Darcy A. Krueger, Thomas J. Dye, David F. Smith, John B. Hogenesch, Carlos Enrique Prada
This study identifies new MTOR variants in Smith-Kingsmore Syndrome, reveals circadian and sleep deficits, and shows rapamycin treatment can improve symptoms.
medRxiv · Feb 15, 2022 · PreprintGenetic & Genomic Medicine