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

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

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

por Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
Publicado 2021