Patient profile, management, and quality of life associated with Dravet syndrome: a cross-sectional, multicentre study of 80 patients in Spain

por Gil-Nagel, Antonio, Sánchez-Carpintero, Rocío, Villanueva, Vicente
Publicado 2023

Time to onset of cannabidiol treatment effect and resolution of adverse events in tuberous sclerosis complex: Post hoc analysis of randomized controlled phase 3 trial GWPCARE6

por Wu, Joyce Y., Cock, Hannah R., Devinsky, Orrin, Joshi, Charuta, Miller, Ian, Roberts, Colin M., Sanchez‐Carpintero, Rocio, Checketts, Daniel, Sahebkar, Farhad
Publicado 2022

Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial

por Miller, Ian, Scheffer, Ingrid E., Gunning, Boudewijn, Sanchez-Carpintero, Rocio, Gil-Nagel, Antonio, Perry, M. Scott, Saneto, Russell P., Checketts, Daniel, Dunayevich, Eduardo, Knappertz, Volker
Publicado 2020

Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

por Ricobaraza, Ana, Mora-Jimenez, Lucia, Puerta, Elena, Sanchez-Carpintero, Rocio, Mingorance, Ana, Artieda, Julio, Nicolas, Maria Jesus, Besne, Guillermo, Bunuales, Maria, Gonzalez-Aparicio, Manuela, Sola-Sevilla, Noemi, Valencia, Miguel, Hernandez-Alcoceba, Ruben
Publicado 2019

Author Correction: Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

por Ricobaraza, Ana, Mora-Jimenez, Lucia, Puerta, Elena, Sanchez-Carpintero, Rocio, Mingorance, Ana, Artieda, Julio, Nicolas, Maria Jesus, Besne, Guillermo, Bunuales, Maria, Gonzalez-Aparicio, Manuela, Sola-Sevilla, Noemi, Valencia, Miguel, Hernandez-Alcoceba, Ruben
Publicado 2021

The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study

por Aledo-Serrano, Ángel, Mingorance, Ana, Villanueva, Vicente, García-Peñas, Juan José, Gil-Nagel, Antonio, Boronat, Susana, Aibar, JoséÁngel, Cámara, Silvia, Yániz, María José, Aras, Luis Miguel, Blanco, Bárbara, Sánchez-Carpintero, Rocío
Publicado 2022

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

por Nabbout, Rima, Mistry, Arun, Zuberi, Sameer, Villeneuve, Nathalie, Gil-Nagel, Antonio, Sanchez-Carpintero, Rocio, Stephani, Ulrich, Laux, Linda, Wirrell, Elaine, Knupp, Kelly, Chiron, Catherine, Farfel, Gail, Galer, Bradley S., Morrison, Glenn, Lock, Michael, Agarwal, Anupam, Auvin, Stéphane
Publicado 2020

Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations

por Mora-Jimenez, Lucia, Valencia, Miguel, Sanchez-Carpintero, Rocio, Tønnesen, Jan, Fadila, Saja, Rubinstein, Moran, Gonzalez-Aparicio, Manuela, Bunuales, Maria, Fernandez-Pierola, Eva, Nicolas, Maria Jesus, Puerta, Elena, Miguelez, Cristina, Minguez, Paula Gimenez, Lumbreras, Sara, Gonzalez-Aseguinolaza, Gloria, Ricobaraza, Ana, Hernandez-Alcoceba, Ruben
Publicado 2021

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

por McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Publicado 2016

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

por Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Publicado 2020