Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

ABSTRACT: Focal malformations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and architectural dysplasia, intractable epilepsy, autism and intellectual disability. Importantly, focal cortical dysplasia is the most common cause of focal intractable paediatric epilepsy. Gain and loss of function variants in the PI3K-AKT-MTOR pathway have been identified in this spectrum, with variable levels of mosaicism and tissue distribution. In this study, we performed deep molecular profiling of common PI3K-AKT-MTOR pathway variants in surgically resected tissues using droplet digital polymerase chain reaction (ddPCR), combined with analysis of key phenotype data. A total o

SUBMITTER: Pirozzi F 

PROVIDER: S-EPMC9630661 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature