Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

por Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Publicado 2021

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

por Mayo, Sonia, Gómez-Manjón, Irene, Marco-Hernández, Ana Victoria, Fernández-Martínez, Francisco Javier, Camacho, Ana, Martínez, Francisco
Publicado 2023

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...

por Kegele, Josua, Krüger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Münchau, Alexander, Lerche, Holger, Lauxmann, Stephan
Publicado 2021

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

por 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
Publicado 2023