Clinical and genetic characterization of CACNA1A‐related disease
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DOI: 10.1111/cge.14180
Abstract: Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical genetic testing, associations have expanded to include developmental delay,… read more here.
Keywords: cacna1a related; disease; related disease; genetic characterization ... See more keywords