Ontology highlight
ABSTRACT:
SUBMITTER: Baek ST
PROVIDER: S-EPMC4955611 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Baek Seung Tae ST Copeland Brett B Yun Eun-Jin EJ Kwon Seok-Kyu SK Guemez-Gamboa Alicia A Schaffer Ashleigh E AE Kim Sangwoo S Kang Hoon-Chul HC Song Saera S Mathern Gary W GW Gleeson Joseph G JG
Nature medicine 20151102 12
Focal malformations of cortical development (FMCDs) account for the majority of drug-resistant pediatric epilepsy. Postzygotic somatic mutations activating the phosphatidylinositol-4,5-bisphosphate-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway are found in a wide range of brain diseases, including FMCDs. It remains unclear how a mutation in a small fraction of cells disrupts the architecture of the entire hemisphere. Within human FMCD-affected brain, we foun ...[more]