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Article

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

HGG advances - 10 Oct 2024

Liu Andrew C, Shen Yang, Serbinski Carolyn R, He Hongzhi, Roman Destino, Endale Mehari, Aschbacher-Smith Lindsey, King Katherine A, Granadillo Jorge L, López Isabel, Krueger Darcy A, Dye Thomas J, Smith David F, Hogenesch John B, Prada Carlos E

Abstract excerpt

Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and individuals with SKS display macrocephaly/megalencephaly, developmental delay, intellectual disability, and seizures. A few dozen individuals are reported in the literature. Here, we report a cohort of 28 individuals with SKS that represent nine MTOR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39030910
DOI: 10.1016/j.xhgg.2024.100333
PMCID: PMC11342114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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