Search Results - "Marco Hernandez, Ana"

A microRNA signature for valproate-induced steatosis in human hepatocytes and its application to predict fatty liver in paediatric epileptic patients on valproate therapy by Soluyanova, Polina, del Pozo, Marta, Moro-Castaño, Erika, Marco-Hernández, Ana V., Castell, José V., Jover, Ramiro

“…Valproate (VPA) has been the first-line, most frequently prescribed antiepileptic drug in children over the past 50 years. VPA causes, idiosyncratic…”
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Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene by Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco

“…IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with…”
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New variants expand the neurological phenotype of COQ7 deficiency by Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos

“…The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐demethoxyubiquinol (DMQ10) in the second to last steps of the pathway…”
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N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants by Mayo, Sonia, Gómez-Manjón, Irene, Marco-Hernández, Ana Victoria, Fernández-Martínez, Francisco Javier, Camacho, Ana, Martínez, Francisco

“…N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with…”
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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy by Martínez-Rubio, Dolores, Hinarejos, Isabel, Argente-Escrig, Herminia, Marco-Marín, Clara, Lozano, María Ana, Gorría-Redondo, Nerea, Lupo, Vincenzo, Martí-Carrera, Itxaso, Miranda, Concepción, Vázquez-López, María, García-Pérez, Asunción, Marco-Hernández, Ana Victoria, Tomás-Vila, Miguel, Aguilera-Albesa, Sergio, Espinós, Carmen

“…Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in…”
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Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing by Rosello, Monica, Caro-Llopis, Alfonso, Orellana, Carmen, Oltra, Silvestre, Alemany-Albert, Marta, Marco-Hernandez, Ana V., Monfort, Sandra, Pedrola, Laia, Martinez, Francisco, Tomás, Miguel

“…Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent research studies focused on genetic…”
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Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity by Tomás-Vila, Miguel, Menor, Francisco, Ley-Martos, Myriam, Jumillas-Luján, M José, Marco-Hernández, Ana V, Barbero, Pedro

“…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare condition that has only recently been reported. Here we present two new…”
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Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability by Marco Hernández, Ana Victoria, Caro, Alfonso, Montoya Filardi, Alejandro, Tomás Vila, Miguel, Monfort, Sandra, Beseler Soto, Beatriz, Nieto‐Barceló, Juan José, Martínez, Francisco

“…Mutations in SPTAN1 gene, encoding the nonerythrocyte αII‐spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide…”
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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab by Martínez-Matilla, Marina, Ferre-Fernández, Jesús José, Aparisi, María José, Marco-Hernández, Ana Victoria, Cerón, Juan Antonio, Crow, Yanick J., Martínez-Castellano, Francisco, Tomás-Vila, Miguel, Pedrola, Laia

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Neurological sequelae in patients with congenital cytomegalovirus by de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernández, Ana Victoria, Boronat González, Nuria, Cernada Badía, María, Tomás Vila, Miguel

“…INTRODUCTIONThe infection due to cytomegalovirus is the most common congenital infection in developed countries, and on of the main causes of psychomotor…”
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Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital by Rubio Atienza, Yolanda, Torrejón Rodríguez, Laura, Marco Hernández, Ana, Tomás Vila, Miguel

“…Venous sinus thrombosis (VST) is a rare entity in pediatrics, probably under-diagnosed and poten tially serious, described as a cause of stroke in childhood…”
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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature by Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco

“…Dominant pathogenic variations in the gene are associated with several neuro developmental disorders with or without epilepsy, including Dravet syndrome (DS)…”
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Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1 - and SLC2A1 -Related Disorders by Kegele, Josua, Krüger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Münchau, Alexander, Lerche, Holger, Lauxmann, Stephan

“…Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and…”
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Trombosis de senos venosos en pediatría. Serie de casos de un hospital terciario by Rubio Atienza, Yolanda, Torrejon Rodriguez, Laura, Marco Hernandez, Ana, Tomás Vila, Miguel

“…La trombosis de senos venosos (TSV) es una entidad poco frecuente en pediatría, probablemente subdiagnosticada y potencialmente grave, descrita como causa de…”
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Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development by Marco-Hernández, Ana Victoria, Caro-Llopis, Alfonso, Rubio Sánchez, Pilar, Martínez Martínez, Juan Carlos, Tomás Vila, Miguel, Monfort, Sandra, Martínez, Francisco

“…Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was…”
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Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation by Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel

“…Abstract Mutations in SCN2A genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to…”
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Secuelas neurológicas en pacientes con infección congénita por citomegalovirus by de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernández, Ana Victoria, Boronat González, Nuria, Cernada Badía, María, Tomás Vila, Miguel

“…La infección por citomegalovirus es la infección congénita más frecuente en los países desarrollados y una de las principales causas de retraso psicomotor y…”
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Neurological sequelae in patients with congenital cytomegalovirus by de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernández, Ana Victoria, Boronat González, Nuria, Cernada Badía, María, Tomás Vila, Miguel

“…The infection due to cytomegalovirus is the most common congenital infection in developed countries, and one of the main causes of psychomotor impairment and…”
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Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation by Nieto-Barcelo, Juan Jose, Gonzalez Montes, Noelia, Gonzalo Alonso, Isabel, Martinez, Francisco, Aparisi, Maria Jose, Martinez-Matilla, Marina, Marco Hernandez, Ana Victoria, Tomás Vila, Miguel

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Trombosis de senos venosos en pediatría. Serie de casos de un hospital terciario by Rubio Atienza, Yolanda, Torrejón Rodríguez, Laura, Marco Hernández, Ana, Tomás Vila, Miguel

“…Resumen: Introducción: La trombosis de senos venosos (TSV) es una entidad poco frecuente en pediatría, probablemente subdiagnosticada y potencialmente grave,…”
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