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Article

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

Journal of human genetics - 1 Apr 2020

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

Abstract excerpt

Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease characterized by cerebellar ataxia. Many causative genes have been identified to date, the most common etiology being the abnormal expansion of repeat sequences, and the mutation of ion channel genes also play an important role in the development of SCA. Some of them encode calcium and potassium channels. However, due to limited reports about...

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PMID: 31907387
DOI: 10.1038/s10038-019-0717-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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