Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A

Pathogenic 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 g...

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Autores principales: Ho, Chang Y., Love, Harrison L., Sokol, Deborah K., Walsh, Laurence E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026904/
https://www.ncbi.nlm.nih.gov/pubmed/33854663
http://dx.doi.org/10.1016/j.radcr.2021.02.052
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author Ho, Chang Y.
Love, Harrison L.
Sokol, Deborah K.
Walsh, Laurence E.
author_facet Ho, Chang Y.
Love, Harrison L.
Sokol, Deborah K.
Walsh, Laurence E.
author_sort Ho, Chang Y.
collection PubMed
description Pathogenic 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.
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spelling pubmed-80269042021-04-13 Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A Ho, Chang Y. Love, Harrison L. Sokol, Deborah K. Walsh, Laurence E. Radiol Case Rep Case Report Pathogenic 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. Elsevier 2021-03-28 /pmc/articles/PMC8026904/ /pubmed/33854663 http://dx.doi.org/10.1016/j.radcr.2021.02.052 Text en © 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ho, Chang Y.
Love, Harrison L.
Sokol, Deborah K.
Walsh, Laurence E.
Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title_full Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title_fullStr Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title_full_unstemmed Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title_short Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
title_sort longitudinal mri brain findings in the r1349q pathogenic variant of cacna1a
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026904/
https://www.ncbi.nlm.nih.gov/pubmed/33854663
http://dx.doi.org/10.1016/j.radcr.2021.02.052
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