Supplementary Material for: Expanding phenotype of SYT-1 related neurodevelopmental disorder: case report and literature review

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 harbouring a novel variant in the...

Ausführliche Beschreibung

Bibliographische Detailangaben

Hauptverfasser:	C.A., Cesaroni, C., Spagnoli, M., Baga, S., Rizzi, D., Frattini, S.G., Caraffi, M., Pollazzon, L., Garavelli, C., Fusco
Format:	Dataset
Sprache:	eng
Schlagworte:	Medicine
Online-Zugang:	Volltext bestellen
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!