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

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Created By Mette Peters Mette

doi: 10.1093/hmg/ddz194
year: 2019
title: Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
authors: Cristiana Pelorosso, Françoise Watrin, Valerio Conti, Emmanuelle Buhler, Antoinette Gelot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy-Venneri, Jean-Bernard Manent, Valentina Cetica, Laurel L Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G Gleeson, Renzo Guerrini, Alfonso Represa
journal: Human Molecular Genetics
project: syn21895556
grantNumber: U01MH108898
projectName: Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
projectTitle: 2/3-Schizophrenia Genetics and Brain Somatic Mosaicism

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

syn22992784

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