Article
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.
European journal of medical genetics - 1 Nov 2020
Hadouiri Nawale, Darmency Veronique, Guibaud Laurent, Arzimanoglou Alexis, Sorlin Arthur, Carmignac Virginie, Rivière Jean-Baptiste, Huet Frédéric, Luu Maxime, Bardou Marc, Thauvin-Robinet Christel, Vabres Pierre, Faivre Laurence
Abstract excerpt
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received...
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