Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

por Cappuccio, Gerarda, Ugga, Lorenzo, Parrini, Elena, D’Amico, Alessandra, Brunetti‐Pierri, Nicola
Publicado 2019

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

por Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
Publicado 2020

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

por Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo
Publicado 2021

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

por Laccetta, Gianluigi, Fiori, Simona, Giampietri, Matteo, Ferrari, Annarita, Cetica, Valentina, Bernardini, Manuela, Chesi, Francesca, Mazzotti, Sara, Parrini, Elena, Ciantelli, Massimiliano, Guzzetta, Andrea, Ghirri, Paolo
Publicado 2019

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

por Iadarola, Barbara, Xumerle, Luciano, Lavezzari, Denise, Paterno, Marta, Marcolungo, Luca, Beltrami, Cristina, Fortunati, Elisabetta, Mei, Davide, Vetro, Annalisa, Guerrini, Renzo, Parrini, Elena, Rossato, Marzia, Delledonne, Massimo
Publicado 2020

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

por Marini, Carla, Romoli, Michele, Parrini, Elena, Costa, Cinzia, Mei, Davide, Mari, Francesco, Parmeggiani, Lucio, Procopio, Elena, Metitieri, Tiziana, Cellini, Elena, Virdò, Simona, De Vita, Dalila, Gentile, Mattia, Prontera, Paolo, Calabresi, Paolo, Guerrini, Renzo
Publicado 2017

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

por Specchio, Nicola, Trivisano, Marina, Lenge, Matteo, Ferretti, Alessandro, Mei, Davide, Parrini, Elena, Napolitano, Antonio, Rossi-Espagnet, Camilla, Talenti, Giacomo, Longo, Daniela, Proietti, Jacopo, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Granata, Tiziana, Darra, Francesca, Bernardina, Bernardo Dalla, Vigevano, Federico, Guerrini, Renzo
Publicado 2023

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

por Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

por Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Publicado 2017

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado 2018

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

por Mirzaa, Ghayda, Conti, Valerio, Timms, Andrew E., Smyser, Christopher D., Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B., Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B., Guerrini, Renzo
Publicado 2015

International consensus recommendations on the diagnostic work-up for malformations of cortical development

por Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Publicado 2020