Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Autor: Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, De Vita, Dalila, Bigoni, Stefania, Barba, Carmen, Mari, Francesco, Montomoli, Martino, Pisano, Tiziana, Rosati, Anna, Guerrini, Renzo, Accorsi, Patrizia, Ardissone, Anna, Battaglia, Domenica, Bertani, Gianna, Borgarello, Gabriella, Cesaroni, Elisabetta, Chiari, Sara, Cordelli, Duccio Maria, Doccini, Viola, Donati, Ilaria, Fontana, Elena, Fusco, Carlo, Gentile, Mattia, Giordano, Lucio, Jacinto, Sandra, Leuzzi, Vincenzo, Mangano, Salvatore, Mastrangelo, Mario, Melani, Federico, Obino, Laure, Offer, Chiara, Pruna, Dario, Ragona, Francesca, Ricciardelli, Paolo, Salandin, Michela, Saporoso, Antonino, Sicca, Federico, Specchio, Nicola, Sterebova, Katalin

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ec62a14c4919784090744c316f01b8
http://hdl.handle.net/10447/222085

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.

Autor: de Sanctis L; Centro Neonati a Rischio, Department of Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy. luisa.desanctis@unito.it., Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2004 Nov; Vol. 89 (11), pp. 5669-74.