Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function von Domínguez‐Carral, Jana, Ludlam, William Grant, Junyent Segarra, Mar, Fornaguera Marti, Montserrat, Balsells, Sol, Muchart, Jordi, Čokolić Petrović, Dunja, Espinoza, Iván, Ortigoza‐Escobar, Juan Dario, Martemyanov, Kirill A., Armstrong, Judith, Blanco‐Lago, Raquel, Bou, Rosa, Cáceres‐Marzal, Cristina, Cancho‐Candela, Ramón, Candela, Santiago, Darling, Alejandra, Los Santos, Mariela Mercedes, García‐Cazorla, Angels, Martí‐Carrera, Itxaso, Martorell, Loreto, Mateos Checa, Rosario, Meavilla, Silvia, Mínguez Rodríguez, Beatriz, Pantoja, Jorge, Pías, Leticia, Parra Plantagenet‐Whyte, Fátima, Pinillos, Sergio, Ruiz‐Hernández, Carlos José, Rumià, Jordi, Caballero Pérez, Victoria, Salvador Cañibano, Maria, Yubero, Delia

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Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization von Natera‐de Benito, Daniel, Muchart, Jordi, Itzep, Debora, Ortez, Carlos, González‐Quereda, Lidia, Gallano, Pía, Ramirez, Alia, Aparicio, Javier, Domínguez‐Carral, Jana, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Pardo Cardozo, Nathalia, Cuadras, Daniel, Codina, Anna, Jou, Cristina, Jimenez‐Mallebrera, Cecilia, Palau, Francesc, Colomer, Jaume, Arzimanoglou, Alexis, Nascimento, Andrés, San Antonio‐Arce, Victoria

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Dyskinetic crisis in GNAO1 -related disorders: clinical perspectives and management strategies von Domínguez Carral, Jana, Reinhard, Carola, Ebrahimi-Fakhari, Darius, Dorison, Nathalie, Galosi, Serena, Garone, Giacomo, Malenica, Masa, Ravelli, Claudia, Serdaroglu, Esra, van de Pol, Laura A, Koy, Anne, Leuzzi, Vincenzo, Roubertie, Agathe, Lin, Jean-Pierre, Doummar, Diane, Cif, Laura, Ortigoza-Escobar, Juan Darío

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Epilepsy in Duchenne and Becker muscular dystrophies von Armijo Gómez, Jesus Alfonso, Fernandez‐Garcia, Miguel A., Camacho, Ana, Liz, Marlin, Ortez, Carlos, Lafuente‐Hidalgo, Miguel, Toledo Bravo‐de Laguna, Laura, Estévez‐Arias, Berta, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Domínguez‐Carral, Jana, Nascimento, Andres, Natera‐de Benito, Daniel

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Diverse faces of GNAO1: mild forms in epilepsy and autism von Ludlam, William Grant, Soliani, Luca, Domínguez-Carral, Jana, Cordelli, Duccio Maria, Marchiani, Valentina, Gorría-Redondo, Nerea, Aguilera-Albesa, Sergio, Martemyanov, Kirill A., Ortigoza-Escobar, Juan Darío

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna

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Benign myoclonic epilepsy in infancy: natural history and behavioral and cognitive outcome von Domínguez-Carral, Jana, García-Peñas, Juan José, Pérez-Jiménez, M Ángeles, Fournier-Del Castillo, M Concepción, Carreras-Sáez, Inmaculada, Jiménez-Echevarría, Saioa

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Epilepsy and cognition: the role of antiepileptic drugs von García-Peñas, Juan José, Fournier-Del Castillo, M Concepción, Domínguez-Carral, Jana

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New genes involved in Angelman syndrome-like: expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun i Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steven, 1973, Derdak, Sophia, Padilla, Natàlia, Cruz, Xavier de la, Capdevila, Núria, Spataro, Nino, 1984, Baena, Neus, Guitart, Miriam, Ruiz, Anna

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Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications von García-Peñas, Juan José, Domínguez-Carral, Jana, Pereira-Bezanilla, Elena

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Molecular characterization of congenital myasthenic syndromes in Spain von Natera-de Benito, Daniel, Topf, Ana, Dominguez-Carral, Jana, Vilchez, Juan Jesus, Diaz Manera, Jorge Alberto, Ortez, Carlos, Oferil, Jaume Colomer, Lochmuller, Hanns, Nascimento, Andres

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum von Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz

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Epilepsia y cognición: el papel de los fármacos antiepilépticos von García Peñas, Juan José, Fournier del Castillo, María Concepción, Domínguez Carral, Jana

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Alteraciones de la sinaptogénesis en el autismo. Implicaciones etiopatogénicas y terapéuticas von García Peñas, Juan José, Domínguez Carral, Jana, Pereira Bezanilla, Elena

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SEVERITY OF GNAO1-RELATED DISORDER CORRELATES WITH CHANGES IN G-PROTEIN FUNCTION: Developing a multi-parametric scoring system von Domínguez-Carral, Jana, Ludlam, William Grant, Segarra, Mar Junyent, Marti, Montserrat Fornaguera, Balsells, Sol, Muchart, Jordi, Petrović, Dunja Čokolić, Espinoza, Iván, Ortigoza-Escobar, Juan Dario, Martemyanov, Kirill A.

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New genes involved in Angelman syndrome-like : Expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramírez Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla Sirera, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena Díez, Neus, Guitart, Míriam, Ruiz, Anna

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New genes involved in Angelman syndrome-like : Expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramírez Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla Sirera, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena Díez, Neus, Guitart, Maria, Ruiz, Anna

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Epilepsia mioclónica benigna del lactante: evolución natural y pronóstico neurocognitivo y conductual von Domínguez Carral, Jana, García Peñas, Juan José, Pérez Jiménez, Mª Ángeles, Fournier del Castillo, María Concepción, Carreras Sáez, Inmaculada, Jiménez Echevarría, Saioa

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Retrospective natural history of thymidine kinase 2 deficiency von Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John LP, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio

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