Associated Papers
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC et al.
Hgg Advances, 2024
39030910 (PubMed )
Supplement: mmc5.pdf
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V et al.
Clinical Neurophysiology Practice, 2024
38495955 (PubMed )
Supplement: mmc1.docx
Smith-Kingsmore syndrome with nystagmus as the initial symptom.
Cai M et al.
Acta Epileptologica, 2023
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL et al.
American Journal of Medical Genetics. Part A, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME et al.
European Journal of Human Genetics : Ejhg, 2019
Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor.
Rodrik-Outmezguine VS et al.
Nature, 2016
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