Original paper
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Abstract
CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who...
Paper Details
Title
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Published Date
Oct 1, 2021
Journal
Volume
23
Issue
10
Pages
1922 - 1932
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History