Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family
Author:
Affiliation:
1. Department of Neurology, College of Medicine, Seoul National University, Korea.
2. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.
Publisher
Korean Neurological Association
Subject
Clinical Neurology,Neurology
Link
https://synapse.koreamed.org/pdf/10.3988/jcn.2006.2.4.268
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay;American Journal of Medical Genetics Part A;2022-09-05
2. Genetic Variants Associated with Episodic Ataxia in Korea;Scientific Reports;2017-10-23
3. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia;Scientific Reports;2017-05-31
4. Episodic Ataxias: Clinical and Genetic Features;Journal of Movement Disorders;2016-09-25
5. Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A;Neurological Sciences;2015-03-18
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