New SKS Research Published!
We are so incredibly thankful for researchers who partner with the Smith-Kingsmore Syndrome Foundation and SKS families around the world to advance the understanding of SKS and get us closer to treatments that work.
July 1, 2021:
Besterman AD, Althoff T, Elfferich P, et al. Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLOS Genetics 17(7): e1009651, 2021.
We are looking forward to Dr. Besterman’s follow up study on the neurobehavioral aspects of SKS patients!
July 15, 2021:
Szczałuba K, Rydzanicz M, Walczak A, et al. Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. Diagnostics (Basel). 2021;11(7):1269. Published 2021 Jul 15. doi:10.3390/diagnostics11071269
May 25, 2021:
Poole RL, Curry PDK, Marcinkute R, et al. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25. PMID: 34032352.