Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

OBJECTIVE: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). METHODS: We collected genetic data of 121 Italian isolated FE cases and 512 control...

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Bibliografski detalji
Izdano u:Ann Clin Transl Neurol
Glavni autori: Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Marconi, Caterina, De Luise, Monica, Myers, Candace, Nardi, Elena, Provini, Federica, Cameli, Cinzia, Minardi, Raffaella, Bacchelli, Elena, Giordano, Lucio, Crichiutti, Giovanni, d'Orsi, Giuseppe, Seri, Marco, Gasparre, Giuseppe, Mefford, Heather C., Tinuper, Paolo, Bisulli, Francesca
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6414475/
https://ncbi.nlm.nih.gov/pubmed/30911571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.722
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