Topic: seizure vulnerability

Schinzel-Giedion syndrome (SGS), a rare developmental disorder characterized by congenital anomalies, intellectual impairment and epilepsy, is attributed to de novo point mutations affecting SET binding protein 1 (SETBP1). These mutations lead to pathological protein accumulation, triggering a cascade of downstream effects, partially understood. Considering the significant neurological consequences of such germline mutations, it is reasonable to speculate that SETBP1 plays a crucial role during central nervous system development, although limited data are available. To dissect SGS epileptogene