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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Detalles Bibliográficos
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

Internet

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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