Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
Marina Trivisano, Manuel Rivera, Alessandra Terracciano, Andrea Ciolfi, Antonio Napolitano, Chiara Pepi, Costanza Calabrese, M. Cristina Digilio, Marco Tartaglia, Paolo Curatolo, Federico Vigevano, Nicola Specchio
Topics & Concepts
EpileptogenesisIctalEpilepsyNeuroscienceIntellectual disabilityTuberous sclerosisElectroencephalographyNeuroimagingTSC1MedicinePsychologyBiologyGeneticsPI3K/AKT/mTOR pathwayPathologyPsychiatrySignal transductionGenetics and Neurodevelopmental DisordersAmino Acid Enzymes and MetabolismGenomics and Rare Diseases