MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms
Marina Trivisano, Angela De Dominicis, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Alessandra Terracciano, Costanza Calabrese, Federico Vigevano, Giuseppe Novelli, Antonio Novelli, Nicola Specchio
Topics & Concepts
Missense mutationEpilepsyMicrocephalyPediatricsWest SyndromeHypotoniaCorpus callosumGlobal developmental delayEncephalopathyMedicineIntellectual disabilityMutationPhenotypePsychiatryGeneticsPathologyBiologyGeneGenomics and Rare DiseasesEpilepsy research and treatmentNeuroscience and Neuropharmacology Research