Carlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, Susanna Rizzi, Daniele Frattini, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Carlo Fusco
INTRODUCTION: Synaptotagmin 1 (SYT1), the predominant SYT isoform in the central nervous system, likely acts by promoting vesicle docking, deforming the plasma membrane via Ca2+ -dependent membrane penetration. CASE PRESENTATION: Here, we describe a 21-year-old woman harboring a novel variant in the SYT1 gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis...
December 2023: Molecular Syndromology