Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J, Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Published in International journal of molecular sciences (23.11.2021)
Published in International journal of molecular sciences (23.11.2021)
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Journal Article
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review
Sturla Álvarez, Daniela Andrea, Sánchez Marcos, Elena, de Lucas Collantes, Carmen, Cantarín Extremera, Verónica, Soto Insuga, Víctor, Aparicio López, Cristina
Published in Pediatric neurology (01.05.2022)
Published in Pediatric neurology (01.05.2022)
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
Soto-Insuga, Víctor, López, Rosa Guerrero, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Cayuelas, Elena Martínez, Giráldez, Beatriz G., Díaz-Gómez, Ester, Sánchez-Martín, Gema, García, Laura Olivié, Serratosa, José M.
Published in Epilepsy research (01.08.2019)
Published in Epilepsy research (01.08.2019)
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Journal Article
Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series
Ballarà Petitbò, Maria, González Alguacil, Elena, Gutiérrez Delicado, Eva, Ortiz Cabrera, Nelmar Valentina, Duat Rodríguez, Anna, García Peñas, Juan José, Soto Insuga, Victor
Published in Epileptic disorders (01.10.2023)
Published in Epileptic disorders (01.10.2023)
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Journal Article
Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome
Jiménez-Legido, María, Martínez-de-Azagra-Garde, Amelia, Bernardino-Cuesta, Beatriz, Solís-Muñiz, Inés, Soto-Insuga, Víctor, Cantarín-Extremera, Verónica, García-Salido, Alberto, Duat-Rodríguez, Anna, García-Peñas, Juan José, Ruíz-Falcó-Rojas, María Luz
Published in European journal of paediatric neurology (01.07.2020)
Published in European journal of paediatric neurology (01.07.2020)
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Journal Article
Do children with attention deficit and hyperactivity disorder (ADHD) have a diferent gait pattern? Relationship between idiopathic toe-walking and ADHD
Soto Insuga, Víctor, Moreno Vinués, Beatriz, Losada Del Pozo, Rebeca, Rodrigo Moreno, María, Martínez González, Marta, Cutillas Ruiz, Raquel, Mateos Carmen, Carmen
Published in Anales de Pediatría (01.04.2018)
Published in Anales de Pediatría (01.04.2018)
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Journal Article
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Ribeiro-Constante, Juliana, Tristán-Noguero, Alba, Martínez Calvo, Fernando Francisco, Ibañez-Mico, Salvador, Peña Segura, José Luis, Ramos-Fernández, José Miguel, Moyano Chicano, María Del Carmen, Camino León, Rafael, Soto Insuga, Víctor, González Alguacil, Elena, Valera Dávila, Carlos, Fernández-Jaén, Alberto, Plans, Laura, Camacho, Ana, Visa-Reñé, Nuria, Martin-Tamayo Blázquez, María Del Pilar, Paredes-Carmona, Fernando, Marti-Carrera, Itxaso, Hernández-Fabián, Aránzazu, Tomas Davi, Meritxell, Sanchez, Merce Casadesus, Herraiz, Laura Cuesta, Pita, Patricia Fuentes, Gonzalez, Teresa Bermejo, O'Callaghan, Mar, Iglesias Santa Polonia, Federico Felipe, Cazorla, María Rosario, Ferrando Lucas, María Teresa, González-Meneses, Antonio, Sala-Coromina, Júlia, Macaya, Alfons, Lasa-Aranzasti, Amaia, Cueto-González, Anna Ma, Valera Párraga, Francisca, Campistol Plana, Jaume, Serrano, Mercedes, Alonso, Xenia, Del Castillo-Berges, Diego, Schwartz-Palleja, Marc, Illescas, Sofía, Ramírez Camacho, Alia, Sans Capdevila, Oscar, García-Cazorla, Angeles, Bayés, Àlex, Alonso-Colmenero, Itziar
Published in Frontiers in cell and developmental biology (05.03.2024)
Published in Frontiers in cell and developmental biology (05.03.2024)
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Journal Article
Estado epiléptico pediátrico
Soto Insuga, Victor, González Alguacil, Elena, García Peñas, Juan José
Published in Revista de neurologiá (2022)
Published in Revista de neurologiá (2022)
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Journal Article
Variabilidad de la expresión clínica de la encefalopatía KCNB1
Púa Torrejón, Ruth Camila, González Alguacil, Elena, Soto Insuga, Victor, Moreno Cantero, Teresa, Ortiz Cabrera, Nelmar Valentina, Pérez Poyato, María del Socorro, Ruiz-Falcó Rojas, María Luz, García Peñas, Juan José
Published in Revista de neurologiá (16.12.2021)
Published in Revista de neurologiá (16.12.2021)
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Journal Article
Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia
Soto Insuga, Victor Miguel, Oses Lara, Marta, Castaño de la Mota, Cristina, Martínez Bermejo, Antonio, González Giráldez, Beatriz, Losada del Pozo, Rebeca, Rodrigo Moreno, María, Martínez Cayuelas, Elena, Diaz Gómez, Esther, Serratosa Fernández, José María
Published in Revista de neurologiá (16.10.2020)
Published in Revista de neurologiá (16.10.2020)
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Journal Article
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function
Santos-Gómez, Ana, Miguez-Cabello, Federico, García-Recio, Adrián, Locubiche-Serra, Sílvia, García-Díaz, Roberto, Soto-Insuga, Víctor, Guerrero-López, Rosa, Juliá-Palacios, Natalia, Ciruela, Francisco, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Published in Human molecular genetics (25.02.2021)
Published in Human molecular genetics (25.02.2021)
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Journal Article
Síndrome de piernas inquietas en pacientes diagnosticados de trastorno por déficit de atención/hiperactividad
Castaño de la Mota, Cristina, Moreno Acero, Noelia, Losada del Pozo, Rebeca, Soto Insuga, Victor Miguel, Pérez Villena, Ana, Rodríguez Fernández, Cristina, Martín del Valle, Fernando, Pons Rodríguez, Montserrat
Published in Revista de neurologiá (01.04.2017)
Published in Revista de neurologiá (01.04.2017)
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Journal Article
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
Ortega-Moreno, Laura, Giráldez, Beatriz G, Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M
Published in PloS one (30.11.2017)
Published in PloS one (30.11.2017)
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Journal Article
Caminan de manera diferente los niños con trastorno por déficit de atención hiperactividad (TDAH)? Relación entre marcha de puntillas idiopática y TDAH
Soto Insuga, Víctor, Moreno Vinués, Beatriz, Losada del Pozo, Rebeca, Rodrigo Moreno, María, Martínez González, Marta, Cutillas Ruiz, Raquel, Mateos Carmen, Carmen
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.04.2018)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.04.2018)
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Journal Article
Smell and Taste Dysfunction in Pediatric Patients With SARS-CoV-2 Infection
Púa Torrejón, Ruth Camila, Ordoño Saiz, María Victoria, González Alguacil, Elena, Furones García, Marta, Cantarín Extremera, Verónica, Ruiz Falcó, María Luz, Soto Insuga, Víctor
Published in Pediatric neurology (01.11.2022)
Published in Pediatric neurology (01.11.2022)
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Journal Article
Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients
Galán-Olleros, María, González-Alguacil, Elena, Soto-Insuga, Víctor, Vara-Arias, María Teresa, Ortiz-Cabrera, Nelmar Valentina, Serrano, J Ignacio, Egea-Gámez, Rosa M, García-Peñas, Juan José, Martínez-Caballero, Ignacio
Published in Journal of autism and developmental disorders (25.05.2024)
Published in Journal of autism and developmental disorders (25.05.2024)
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Journal Article
Efficacy of Brivaracetam in children with epilepsy
Ferragut Ferretjans, Fernando, Soto Insuga, Víctor, Bernardino Cuesta, Beatriz, Cantarín Extremera, Verónica, Duat Rodriguez, Anna, Legido, María Jiménez, González Alguacil, Elena, Furones García, Marta, Gutiérrez Solana, Luis, Moreno Cantero, Teresa, Ruiz Falcó, Maria-Luz, García Peñas, Juan José
Published in Epilepsy research (01.11.2021)
Published in Epilepsy research (01.11.2021)
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Journal Article
Central sleep apnea in children with obstructive sleep apnea syndrome and improvement following adenotonsillectomy
Del‐Río Camacho, Genoveva, Medina Castillo, Lucía, Rodríguez‐Catalán, Jesús, Soto Insuga, Victor, Gómez García, Teresa
Published in Pediatric pulmonology (01.11.2019)
Published in Pediatric pulmonology (01.11.2019)
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Journal Article
Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
Armangue, Thaís, Spatola, Marianna, Vlagea, Alexandru, Mattozzi, Simone, Cárceles-Cordon, Marc, Martinez-Heras, Eloy, Llufriu, Sara, Muchart, Jordi, Erro, María Elena, Abraira, Laura, Moris, German, Monros-Giménez, Luis, Corral-Corral, Íñigo, Montejo, Carmen, Toledo, Manuel, Bataller, Luis, Secondi, Gabriela, Ariño, Helena, Martínez-Hernández, Eugenia, Juan, Manel, Marcos, Maria Angeles, Alsina, Laia, Saiz, Albert, Rosenfeld, Myrna R, Graus, Francesc, Dalmau, Josep, Aguilera-Albesa, Sergio, Amado-Puentes, Alfonso, Arjona-Padillo, Antonio, Arrabal, Luisa, Arratibel, Izascun, Aznar-Laín, Gemma, Bellas-Lamas, Paula, Bermejo, Teresa, Boyero-Durán, Sabas, Camacho, Ana, Campo, Andrea, Campos, Dulce, Cantarín-Extremera, Verónica, Carnero, Cristóbal, Conejo-Moreno, David, Dapena, Marta, Dacruz-Álvarez, David, Delgadillo-Chilavert, Verónica, Deyà, Angela, Estela-Herrero, Jordi, Felipe, Anna, Fernández-Cooke, Elisa, Fernández-Ramos, Joaquín, Fortuny, Claudia, García-Monco, Juan C, Gili, Teresa, González-Álvarez, Verónica, Guerri, Robert, Guillén, Sara, Hedrera-Fernández, Antonio, López, María, López-Laso, Eduardo, Lorenzo-Ruiz, María, Madruga, Marcos, Málaga-Diéguez, Ignacio, Martí-Carrera, Itxaso, Martínez-Lacasa, Xavier, Martín-Viota, Lucía, Martín Gil, Leticia, Martínez-González, María-Jesús, Moreira, Antia, Miranda-Herrero, María C, Monge, Lorena, Muñoz-Cabello, Beatriz, Navarro-Morón, Juan, Neth, Olaf, Noguera-Julian, Antoni, Nuñez-Enamorado, Noemí, Pomar, Virginia, Portillo-Cuenca, Juan C, Poyato, María, Prieto, Luis, Querol, Luis, Rodríguez-Rodríguez, Eloy, Sarria-Estrada, Silvana, Sierra, Concepción, Soler-Palacín, Pere, Soto-Insuga, Víctor, Toledo-Bravo, Laura, Tomás, Miguel, Torres-Torres, Carmen, Turón, Eulàlia, Zabalza, Ana
Published in Lancet neurology (01.09.2018)
Published in Lancet neurology (01.09.2018)
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