Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel s...

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發表在:Neurol Genet
Main Authors: Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie
格式: Artigo
語言:Inglês
出版: Wolters Kluwer 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5089441/
https://ncbi.nlm.nih.gov/pubmed/27830187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000118
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