Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

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 i...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935386/
https://ncbi.nlm.nih.gov/pubmed/31411685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz194
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