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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| 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 |