Article
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.
Seizure - 1 Jul 2024
Mastrangelo Mario, Greco Carlo, Tolve Manuela, Bartolini Emanuele, Russo Angelo, Nicita Francesco, Pruna Dario, Galli Jessica, Favaro Jacopo, Terrone Gaetano, De Felice Claudio, Pisani Francesco
Abstract excerpt
BACKGROUND: Epilepsy is a hallmark of IQSEC2-related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy. PATIENTS AND METHODS: Data including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in...
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