A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

Abstract

Brain development disorder: causal mutation suggests target for treating epilepsy Identifying a genetic mutation causing a congenital brain disorder that triggers difficult-to-treat epilepsy suggests a potential therapeutic target, according to Chinese scientists. Focal cortical dysplasia type II (FCDII) is one of a group of brain development abnormalities that cause intractable epilepsy. Scientists have identified gene mutations in some FCDII patients linked to a signaling pathway involved in cell proliferation and metabolism in the developing brain. Now, Yun-wu Zhang and Yi Yao at Xiamen University in Fujian, China, and co-workers have discovered a mutation on a gene which triggers abnormal activation of the same signaling pathway. The team found that the drug rapamycin, which inhibits this pathway, alleviated epileptic seizures in mice with the mutant gene. Their findings add weight to the theory that this pathway may be a viable target for future therapies.