Genetic Variants Associated with Episodic Ataxia in Korea-Reference-Cited by-同舟云学术

Genetic Variants Associated with Episodic Ataxia in Korea

Published:2017-10-23 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Choi Kwang-Dong,Kim Ji-Soo,Kim Hyo-Jung,Jung Ileok,Jeong Seong-Hae,Lee Seung-Han,Kim Dong Uk,Kim Sang-Ho,Choi Seo Young,Shin Jin-Hong,Kim Dae-Seong,Park Kyung-Pil,Kim Hyang-Sook,Choi Jae-Hwan

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-14254-7.pdf

Reference53 articles.

1. Choi, K. D. & Choi, J. H. Episodic Ataxias: Clinical and Genetic Features. J Mov Disord. 9, 129–135 (2016).

2. Jen, J. C. et al. CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 130, 2484–2493 (2007).

3. Tomlinson, S. E., Hanna, M. G., Kullmann, D. M., Tan, S. V. & Burke, D. Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo. Clin Neurophysiol. 120, 1768–1776 (2009).

4. Escayg, A. et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 66, 1531–1539 (2000).

5. Jen, J. C., Wan, J., Palos, T. P., Howard, B. D. & Baloh, R. W. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 65, 529–534 (2005).

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