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DEPDC5 variant in focal cortical dysplasia: a case report and review of the lit...
Ribeiro, Joana de Jesus; Pereira, Cristina Duarte; Robalo, Conceição; Pereira, Daniela J.; Duro, Diana; Ramos, Fabiana; Freire, António; Melo, Joana B.Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatibl...
Date: 2021
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Origin: Estudo Geral - Universidade de Coimbra