Eric Krochmalnek, Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem, Gyan Prakash, Sung-Hoon Kim, Tristan Brunette-Clement, Ghadd Alhajaj, Lina Mougharbel, Elena Bruneau, Kenneth A Myers, Francois Dubeau, Jason Karamchandani, Jean-Pierre Farmer, Jeffrey Atkinson, Jeffrey Hall, Chantal Chantal Poulin, Bernard Rosenblatt, Joel Lafond-Lapalme, Alexander Weil, Catherine Fallet-Bianco, Steffen Albrecht, Nahum Sonenberg, Jean-Baptiste Riviere, Roy W Dudley, Myriam Srour
BACKGROUND AND OBJECTIVES: Somatic and germline pathogenic variants in genes of the mammalian target of rapamycin (mTOR) signaling pathway are a common mechanism underlying a subset of focal malformations of cortical development (FMCDs) referred to as mTORopathies, which include focal cortical dysplasia (FCD) type II, subtypes of polymicrogyria, and hemimegalencephaly. Our objective is to screen resected FMCD specimens with mTORopathy features on histology for causal somatic variants in mTOR pathway genes, describe novel pathogenic variants, and examine the variant distribution in relation to neuroimaging, histopathologic classification, and clinical outcomes...
December 2023: Neurology. Genetics