mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review-Reference-Cited by-同舟云学术

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

Published:2018-02-13 Issue:4 Volume:93 Page:762-775
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Gordo G.¹²³,Tenorio J.¹²^ORCID,Arias P.¹²,Santos-Simarro F.¹⁴,García-Miñaur S.¹⁴,Moreno J.C.¹²,Nevado J.¹⁵,Vallespin E.¹⁵,Rodriguez-Laguna L.¹³,de Mena R.¹⁵,Dapia I.¹²,Palomares-Bralo M.¹⁵^ORCID,del Pozo Á.¹⁶,Ibañez K.¹⁶,Silla J.C.¹⁶,Barroso E.¹²,Ruiz-Pérez V.L.¹⁷,Martinez-Glez V.¹³⁴^ORCID,Lapunzina P.¹²⁴^ORCID

Affiliation:

1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); ISCIII; Madrid Spain

2. Molecular Endocrinology Section, Overgrowth Syndromes Laboratory; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

3. Vascular Malformations Section; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

4. Clinical Genetics Section; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

5. Structural and Functional Genomics Section; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

6. Bioinformatics Section; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

7. IIB, Instituto de Investigación “Alberto Sols”; Universidad Autónoma de Madrid (UAM); Madrid Spain

Funder

Instituto de Salud Carlos III

“Todos Somos Raros” (Telemaraton TVE promoted by Fundación Isabel Gemio, Federación ASEM, and Federación Española de Enfermedades Raras)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13135/fullpdf

Reference33 articles.

1. Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures;Smith;J Genomes Exomes,2013

2. mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis;Citraro;Pharmacol Res,2016

3. mTOR inhibitors as a new therapeutic option for epilepsy;Curatolo;Expert Rev Neurother,2013

4. mTOR: a pathogenic signaling pathway in developmental brain malformations;Crino;Trends Mol Med,2011

5. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution;Mirzaa;JCI Insight,2016

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