Article
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Seizure - 1 Oct 2022
Trivisano Marina, De Dominicis Angela, Micalizzi Alessia, Ferretti Alessandro, Dentici Maria Lisa, Terracciano Alessandra, Calabrese Costanza, Vigevano Federico, Novelli Giuseppe, Novelli Antonio, Specchio Nicola
Abstract excerpt
PURPOSE: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperactivity disorder, epilepsy, ocular or skeletal abnormalities, congenital cardiac defects, and facial dysmorphisms. Here, we report a patient with an epileptic...
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