Topic: RHEB-p.P37L

Focal cortical dysplasia type ll (FCD2) is a congenital brain abnormality characterized by atypical focal brain organizations and dysmorphic neurons, frequently associated with refractory epilepsy. One causative mutation of FCD2 is a gain-of-function mutation in Ras Homologue Enriched in Brain (RHEB), RHEB-p.P37L. Studies on tissue resected from FCD2 patients suggest an elevated NKCC1:KCC2 compared to control tissue. The relative expression of these chloride transporters regulates the chloride reversal potential (ECl). The typical hyperpolarization of ECl during development, due to the upregul