Article

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis

2022-02-21

Abstract excerpt

<h4>ABSTRACT</h4> 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 repr...

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Literature Corpus work: 176b712c-df7f-5235-9222-d34739dd6336
DOI: 10.1101/2022.02.15.22269076

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