Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Open Access

Peer-reviewed

Research Article

Yafang Hu ,

Contributed equally to this work with: Yafang Hu, Haishan Jiang

Affiliation Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China
⨯
Haishan Jiang ,

Contributed equally to this work with: Yafang Hu, Haishan Jiang

Affiliation Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China
⨯
Qun Wang,

Affiliation Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China
⨯
Zuoshan Xie,

Affiliation Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China
⨯
Suyue Pan

* E-mail: pansuyue82@yahoo.com.cn

Affiliation Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of China
⨯

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Nonsense mutation
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Abdominal pain
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Ataxia
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Vertigo
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Migraine
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Vomiting
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Heterozygosity
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Next-generation sequencing
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