Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia-Reference-Cited by-同舟云学术

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Published:2020-01-07 Issue:4 Volume:65 Page:363-369
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tada Yui,Kume Kodai^ORCID,Matsuda Yukiko,Kurashige Takashi^ORCID,Kanaya Yuhei,Ohsawa Ryosuke,Morino Hiroyuki,Tabu Hayato,Kaneko Satoshi,Suenaga Toshihiko,Kakizuka Akira,Kawakami Hideshi^ORCID

Funder

Takeda Science Foundation

Uehara Memorial Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0717-y.pdf

Reference21 articles.

1. Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Prim. 2019;5:24.

2. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62–9.

3. Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, et al. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am J Hum Genet. 2015;97:726–37.

4. Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, et al. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Mol Brain. 2015;29:89.

5. Kimura M, Yabe I, Hama Y, Eguchi K, Ura S, Tsuzaka K, et al. SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. J Hum Genet. 2017;62:857–9.

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