Maria Isabel Bahamonde Selma Angèlica Serra Oliver Drechsel Rubayte Rahman Anna Marcé-Grau Marta Prieto Stephan Ossowski Alfons Macaya José M Fernández-Fernández
10.1371/journal.pone.0146035
PLoS One
2015 Dec 30;10(12):e0146035.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26716990/
Ataxia / genetics Calcium Channels, N-Type / genetics Sequence Deletion / genetics
Ataxia / genetics Calcium Channels, N-Type / genetics Sequence Deletion / genetics Case Reports Research Support, Non-U.S. Gov't Ataxia / congenital Ataxia / pathology Brain / pathology Calcium / metabolism Child Humans Magnetic Resonance Imaging Male Neuroimaging Sequence Deletion / physiology Calcium Channels, N-Type voltage-dependent calcium channel (P-Q type) Calcium
PMC4696675
26716990
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
2015