Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14358
Abstract: Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic manifestations or developmental delay. Variants located on the AG/GT consensus splice sites are usually… read more here.
Keywords: splice; rna sequencing; novel cacna1a; patients episodic ... See more keywords