Search Results - "Soto Insuga, Victor"

Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series by Ballarà Petitbò, Maria, González Alguacil, Elena, Gutiérrez Delicado, Eva, Ortiz Cabrera, Nelmar Valentina, Duat Rodríguez, Anna, García Peñas, Juan José, Soto Insuga, Victor

“…Abstract Objective Epilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is…”
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Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function by 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

“…De novo GRIN variants, encoding for the ionotropic glutamate NMDA receptor subunits, have been recently associated with GRIN-related disorders, a group of rare…”
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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes by 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

“…Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential…”
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Smell and Taste Dysfunction in Pediatric Patients With SARS-CoV-2 Infection by Púa Torrejón, Ruth Camila, Ordoño Saiz, María Victoria, González Alguacil, Elena, Furones García, Marta, Cantarín Extremera, Verónica, Ruiz Falcó, María Luz, Soto Insuga, Víctor

“…Anosmia and hypogeusia are frequent symptoms in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in adults, but their incidence in…”
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Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients by 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

“…Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic…”
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Efficacy of Brivaracetam in children with epilepsy by 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

“…•As far as we know, our case report is the largest such study of children with refractory epilepsy in which the effects of BRV are analysed.•Despite the…”
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Central sleep apnea in children with obstructive sleep apnea syndrome and improvement following adenotonsillectomy by Del‐Río Camacho, Genoveva, Medina Castillo, Lucía, Rodríguez‐Catalán, Jesús, Soto Insuga, Victor, Gómez García, Teresa

“…Background Although the pathogenesis of central and obstructive events seems to be different, these two entities may somehow be related. We aimed to determine…”
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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum by 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

“…GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting genes (mostly , and genes), which…”
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Peripheral facial nerve palsy in children during the COVID-19 pandemic by Andina-Martínez, D, Rodríguez-Palero, S, Soto-Insuga, V, Alonso-Cadenas, J A, Bernardino-Cuesta, B, Cartas-Carrión, S, Cantarín-Extremera, V

“…During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease…”
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2576 12-Month effectiveness and tolerability of brivaracetam in patients with epilepsy switching from levetiracetam Vs Other antiseizure medications in the real-world by D’Souza, Wendyl, Faught, Edward, Klein, Pavel, Reuber, Markus, Rosenow, Felix, Salas-Puig, Javier, Insuga, Victor Soto, Strzelczyk, Adam, Steinhoff, Bernhard J, Szaflarski, Jerzy P, Besson, Herve, Bourikas, Dimitrios, Daniels, Tony, Floricel, Florin, Friesen, David, Laloyaux, Cedric, Moody, Anita, Sendersky, Veronica, Villanueva, Vicente

“…ObjectivesAssess effectiveness and tolerability of brivaracetam (BRV) in patients switching from levetiracetam (LEV) and from other antiseizure medications…”
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2628 12-Month effectiveness and tolerability of brivaracetam in the real-world in the international EXPERIENCE pooled analysis: final results and Australian subgroup by D’Souza, Wendyl, Faught, Edward, Klein, Pavel, Reuber, Markus, Rosenow, Felix, Salas-Puig, Javier, Insuga, Victor Soto, Strzelczyk, Adam, Steinhoff, Bernhard J, Szaflarski, Jerzy P, Besson, Herve, Bourikas, Dimitrios, Daniels, Tony, Floricel, Florin, Friesen, David, Laloyaux, Cedric, Sendersky, Veronica, Welton, Jeremy, Villanueva, Vicente

“…ObjectivesAssess effectiveness/tolerability of brivaracetam (BRV) in routine practice in a large international population (Spain/Germany/Australia/United…”
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Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010 by Rodríguez-Fernández, Cristina, López-Marín, Laura, López-Pino, Miguel Ángel, Gutiérrez-Solana, Luis G, Soto-Insuga, Víctor, Conejo-Moreno, David

“…Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease that essentially affects the white matter of the central nervous system. The diagnosis…”
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Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review by Sturla Álvarez, Daniela Andrea, Sánchez Marcos, Elena, de Lucas Collantes, Carmen, Cantarín Extremera, Verónica, Soto Insuga, Víctor, Aparicio López, Cristina

“…Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in…”
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features by 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.

“…Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose…”
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Importancia de los problemas de sueño en los niños con cefalea y otros trastornos del neurodesarrollo en las consultas de neuropediatría by Pérez Villena, Ana, Soto Insuga, Victor Miguel, Castaño de la Mota, Cristina, Martín del Valle, Fernando, Pons Rodríguez, Montserrat, Losada del Pozo, Rebeca, Moreno Acero, Noelia, Alarcón Martínez, Helena, Rodrigo Moreno, María, Miravet Fuster, Elena, Monfort Belenguer, Lucía, Polo Antúnez, Antonio, Martínez Bermejo, Antonio, Merino Andréu, Milagros

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Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome by 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

“…Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual…”
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Do children with attention deficit and hyperactivity disorder (ADHD) have a diferent gait pattern? Relationship between idiopathic toe-walking and ADHD by Soto Insuga, Víctor, Moreno Vinués, Beatriz, Losada Del Pozo, Rebeca, Rodrigo Moreno, María, Martínez González, Marta, Cutillas Ruiz, Raquel, Mateos Carmen, Carmen

“…Idiopathic toe-walking (ITW) is described as a gait pattern with no contact between the heels and the ground in children older than 3years. The diagnosis is…”
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12-month Effectiveness and Tolerability of Brivaracetam in Patients with Epilepsy and Cognitive or Psychiatric Comorbidities: Subgroup Data from the International EXPERIENCE Pooled Analysis (P8-1.009) by Villanueva, Vicente, D’Souza, Wendyl, Faught, Edward, Klein, Pavel, Reuber, Markus, Rosenow, Felix, Salas-Puig, Javier, Insuga, Victor Soto, Strzelczyk, Adam, Szaflarski, Jerzy P., Besson, Herve, Bourikas, Dimitrios, Daniels, Tony, Floricel, Florin, Friesen, David, Laloyaux, Cedric, Sendersky, Veronica, Steinhoff, Bernhard J.

“…Abstract only…”
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Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy by 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

“…haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental…”
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Cómo debemos abordar las encefalopatías epilépticas del lactante? Conclusiones by Soto Insuga, Victor Miguel

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