Condition: SPINOCEREBELLAR ATAXIA 42
rs755221106 in
CACNA1G gene and
SPINOCEREBELLAR ATAXIA 42
PMID 26456284 2015 A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
PMID 26715324 2015 A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.