Epileptogenesis in Sturge-Weber syndrome

Abstract

Sturge-Weber syndrome (SWS) is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain, glaucoma and leptomeningeal angioma. It is hypothesized that somatic mutation in GNAQ (p.R183Q), which is associated with the disruption of vascular development, may be a possible mechanism of SWS. The neurological course of this disease may be progressive, and its major morbidity includes epilepsy, stroke-like episodes and intellectual retardation. The earlier the time point of the mutation, the severer the disease presents itself later in life. However, the relationship between SWS and epileptogenesis is still unknown.

Keywords

Sturge-Weber syndrome (SWS) / epileptogenesis / vascular malformation / ischemia / calcification / neurocutaneous disorder