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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2016
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Article
Acesso em linha: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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