Ho, Chang Y.Love, Harrison L.Sokol, Deborah K.Walsh, Laurence E.2022-08-262022-08-262021-03-28Ho CY, Love HL, Sokol DK, Walsh LE. Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A. Radiol Case Rep. 2021;16(6):1276-1279. Published 2021 Mar 28. doi:10.1016/j.radcr.2021.02.052https://hdl.handle.net/1805/29899Pathogenic 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.en-USAttribution-NonCommercial-NoDerivatives 4.0 InternationalCACNA1AHemiplegic MigrainesEpisodic AtaxiaArticle