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Clinical and genetic characterization of CACNA1A ‐related disease

20 Jun 2022

Abstract excerpt

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, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders. We report 47 individuals with 33 unique likely pathogenic or pathogenic CACNA1A variants. A...

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PMID: 35722745
DOI: 10.1111/cge.14180

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