GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy
Marina Trivisano, Marta Elena Santarone, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Antonio Novelli, Federico Vigevano, Nicola Specchio
Topics & Concepts
EpilepsyMissense mutationMyoclonic epilepsyMedicinePediatricsHypotoniaEpilepsy syndromesMyoclonic JerkEncephalopathyChildhood absence epilepsySeizure typesPsychiatryMutationGeneticsBiologyGeneNeuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental DisordersEpilepsy research and treatment