Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A

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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Bibliographic Details
Main Authors: Chang Y. Ho, MD, Harrison L. Love, MSIV, Deborah K. Sokol, MD, Laurence E. Walsh, MD
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Radiology Case Reports
Subjects:
CACNA1A
Hemiplegic Migraines
Episodic Ataxia
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043321001163

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http://www.sciencedirect.com/science/article/pii/S1930043321001163

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