Year: 2024
Type: article
Abstract: The CACNA1A gene encodes the alpha subunit of the P/Q calcium channel. Pathogenic variants in this gene have been associated with several disorders, including episodic ataxia, familial hemiplegic migraine, spinocerebellar ataxia, and developmental epileptic encephalopathy. This wide clinical spectrum presents a challenge to variant interpretation as there is an incomplete understanding of the genotype–phenotype correlation.
Source: Genetics in Medicine Open
Authors: Emile Moura Coelho da Silva, Alina Ivaniuk, Emily Huth, Costin Leu, Oscar Mancera, Omolara Kolawole, Matthew Wright, Ian Butler, Pauline Filipek, Jeremy Lankford, Michael Watkins, Elia Pestana Knight, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392589088