GENETICS Mutations in mTOR pathway linked to megalencephaly syndromes

Megalencephaly syndromes are a spectrum of severe developmental neurological disorders associated with brain overgrowth. Two recent studies highlight the pathogenic role of somatic mutations in genes of the mTOR signalling pathway in the brains of patients with these conditions, providing hope for development of new treatments. Striano, P. & Zara, F. Nat. Rev. Neurol. 8, 542-544 (2012); published online 21 August 2012; doi:10.1038/nrneurol.2012.178