A novel mutation in SLC1A3 causes episodic ataxia-Reference-Cited by-同舟云学术

A novel mutation in SLC1A3 causes episodic ataxia

Published:2017-12-05 Issue:2 Volume:63 Page:207-211
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Iwama Kazuhiro^ORCID,Iwata Aya,Shiina Masaaki,Mitsuhashi Satomi,Miyatake Satoko,Takata Atsushi,Miyake Noriko,Ogata Kazuhiro,Ito Shuichi,Mizuguchi Takeshi,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0365-z.pdf

Reference19 articles.

1. Caffarelli M, Kimia AA, Torres AR. Acute ataxia in children: a review of the differential diagnosis and evaluation in the emergency department. Pediatr Neurol. 2016;65:14–30.

2. Jen JC. Hereditary episodic ataxias. Ann N Y Acad Sci. 2008;1142:250–3.

3. Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, et al. A novel locus for episodic ataxia: UBR4 the likely candidate. EJHG. 2014;22:505–10.

4. Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, et al. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Neurogenetics. 2016;17:245–9.

5. Maksemous N, Roy B, Smith RA, Griffiths LR. Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. Mol Genet Genomic Med. 2016;4:211–22.

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