Article
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Human molecular genetics - 15 Nov 2019
Pelorosso Cristiana, Watrin Françoise, Conti Valerio, Buhler Emmanuelle, Gelot Antoinette, Yang Xiaoxu, Mei Davide, McEvoy-Venneri Jennifer, Manent Jean-Bernard, Cetica Valentina, Ball Laurel L, Buccoliero Anna Maria, Vinck Antonin, Barba Carmen, Gleeson Joseph G, Guerrini Renzo, Represa Alfonso
Abstract excerpt
Single germline or somatic activating mutations of mammalian target of rapamycin (mTOR) pathway genes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit mechanism, based on a primary germline mutation in one allele and a secondary somatic hit affecting the other allele of the same gene in a small number of cells, has...
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