Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior-Reference-Cited by-同舟云学术

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

Published:2024-10 Issue:4 Volume:5 Page:100333
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Liu Andrew C.^ORCID,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.

Funder

University of Florida College of Medicine

Publisher

Elsevier BV

Reference78 articles.

1. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly;Lee;Nat. Genet.,2012

2. Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures;Smith;J. Geno. Exomes,2013

3. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces;Baynam;Am. J. Med. Genet.,2015

4. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy;Lim;Nat. Med.,2015

5. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities;Mroske;BMC Med. Genet.,2015

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