Ontology highlight
ABSTRACT:
SUBMITTER: Roy A
PROVIDER: S-EPMC4744197 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Roy Achira A Skibo Jonathan J Kalume Franck F Ni Jing J Rankin Sherri S Lu Yiling Y Dobyns William B WB Mills Gordon B GB Zhao Jean J JJ Baker Suzanne J SJ Millen Kathleen J KJ
eLife 20151203
Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide spectrum of brain and body overgrowth. In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy. We generated mouse models expressing the most common activating Pik3ca mutati ...[more]