Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature von Marco Hernandez, Ana Victoria, Tomas Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco

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Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene von 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

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Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development von Marco-Hernández, Ana Victoria, Caro-Llopis, Alfonso, Rubio Sánchez, Pilar, Martínez Martínez, Juan Carlos, Tomás Vila, Miguel, Monfort, Sandra, Martínez, Francisco

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N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants von Mayo, Sonia, Gómez-Manjón, Irene, Marco-Hernández, Ana Victoria, Fernández-Martínez, Francisco Javier, Camacho, Ana, Martínez, Francisco

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New variants expand the neurological phenotype of COQ7 deficiency von 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

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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy von 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

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Secuelas neurológicas en pacientes con infección congénita por citomegalovirus von de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernández, Ana Victoria, Boronat González, Nuria, Cernada Badía, María, Tomás Vila, Miguel

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Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability von Marco Hernández, Ana Victoria, Caro, Alfonso, Montoya Filardi, Alejandro, Tomás Vila, Miguel, Monfort, Sandra, Beseler Soto, Beatriz, Nieto‐Barceló, Juan José, Martínez, Francisco

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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab von 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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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... von Kegele, Josua, Krueger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Muenchau, Alexander, Lerche, Holger, Lauxmann, Stephan

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Neurological sequelae in patients with congenital cytomegalovirus von de Juan Gallach, Alba, Alemany Albert, Marta, Marco Hernandez, Ana Victoria, Boronat Gonzalez, Nuria, Cernada Badia, Maria, Tomas Vila, Miguel

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

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

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Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation von 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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Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente von Tomás Vila, Miguel, Menor Serrano, Francisco, Ley Martos, Myriam, Chumillas Luján, María José, Marco Hernández, Ana Victoria, Barbero Aguirre, Pedro

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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature von Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco

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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab von 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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Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation von 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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Nutritional diagnoses in people with type 2 diabetes: association with metabolic, anthropometric, and dietary parameters von Landa-Anell, María Victoria, Del Razo-Olvera, Fabiola M, Bodnar, Irene, Cordova-Isidro, Brenda, Lagunas-Valdepeña, Daniela, Arias-Marroquín, Ana T, García-Ulloa, Ana Cristina, Melgarejo-Hernández, Marco Antonio, Hernández-Jiménez, Sergio

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Barriers to adherence to a nutritional plan and strategies to overcome them in patients with type 2 diabetes mellitus; results after two years of follow-up von Landa-Anell, María Victoria, Melgarejo-Hernández, Marco Antonio, García-Ulloa, Ana Cristina, Del Razo-Olvera, Fabiola Mabel, Velázquez-Jurado, Héctor Rafael, Hernández-Jiménez, Sergio

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