Achira Roy

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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(More)
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and(More)
in utero cyanosis. Our studies have shown that WM-immaturity causes increased oligodendrocyte apoptosis following ischemiareperfusion/reoxygenation (I/R). Astrocytes play a central role in brain protection. Using our rodent brain-slice model, we investigated: (i) the role of astrocytes in reducing WM-injury after surgery; and (ii) the effects of(More)
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