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.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care / Filomena Pirozzi , Matthew Berkseth , Rylee Shear , Lorenzo Gonzalez , Andrew E Timms , Josef Sulc , Emily Pao , Nora Oyama , Francesca Forzano , Valerio Conti , Renzo Guerrini , Emily S Doherty , Sulagna C Saitta, Christina M Lockwood , Colin C Pritchard , William B Dobyns , Edward Novotny , Jason N N Wright , Russell P Saneto, Seth Friedman , Jason Hauptman , Jeffrey Ojemann , Raj P Kapur , Ghayda M Mirzaa.. - In: BRAIN. - ISSN 0006-8950. - ELETTRONICO. - 145:(2022), pp. 925-938. [10.1093/brain/awab376]
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Valerio Conti;Renzo Guerrini;
2022
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.
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