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Browsing by Author "Love, Harrison L."
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Item Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A(Elsevier, 2021-03-28) Ho, Chang Y.; Love, Harrison L.; Sokol, Deborah K.; Walsh, Laurence E.; Radiology and Imaging Sciences, School of MedicinePathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability. We present a case of a pathogenic variant (c.4046G>A, p.R1349Q) in the CACNA1A gene associated with a clinical phenotype of global developmental delay, left hemiparesis, epilepsy, and stroke-like episodes. Longitudinal neuroimaging demonstrates hemispheric encephalomalacia with mismatched perfusion and angiographic imaging, in addition to progressive cerebellar atrophy.Item Pandemic: Radiologists’ Ethical and Professional Responsibilities(Elsevier, 2020-04-17) Love, Harrison L.; Gunderman, Richard B.; Medicine, School of Medicine