Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
About this item
Full title
Author / Creator
Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission , the Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission , 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 , Bianchi, Amedeo , Striano, Pasquale , Gambardella, Antonio , Meletti, Stefano , Dilena, Roberto , Santucci, Margherita , Marini, Carla , Vignoli, Aglaia , Gobbi, Giuseppe , Briatore, Eleonora and Mastrangelo, Massimo
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 controls by Whole Exome Sequencing (WES) and singl...
Alternative Titles
Full title
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
Authors, Artists and Contributors
Author / Creator
the Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission
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
Bianchi, Amedeo
Striano, Pasquale
Gambardella, Antonio
Meletti, Stefano
Dilena, Roberto
Santucci, Margherita
Marini, Carla
Vignoli, Aglaia
Gobbi, Giuseppe
Briatore, Eleonora
Mastrangelo, Massimo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6414475
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6414475
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.722
