A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Hiroyuki Morino,Yukiko Matsuda,Keiko Muguruma,Ryosuke Miyamoto,Ryosuke Ohsawa,Toshiyuki Ohtake,Reiko Otobe,Masahiko Watanabe,Hirofumi Maruyama,Kouichi Hashimoto,Hideshi Kawakami

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

2015

Hiroyuki Morino
Yukiko Matsuda
Keiko Muguruma
Ryosuke Miyamoto
Ryosuke Ohsawa
Toshiyuki Ohtake
Reiko Otobe
Masahiko Watanabe
Hirofumi Maruyama
Kouichi Hashimoto
Hideshi Kawakami

Background Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease. To date, 36 dominantly inherited loci have been reported, and 31 causative genes have been identified.

Keywords:

Neuroscience
Locus (genetics)
Spinocerebellar ataxia
Genetic heterogeneity
Biology
Calcium channel
HEK 293 cells
T-type calcium channel
Genetic linkage
Genetics
Mutation
Channelopathy
Cerebellar ataxia
Exome sequencing
Ataxia
Dominance (genetics)

Correction
Source
Cite
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