Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report

被引：5
|
作者：
Hamed, Moath [1 ]
Shetty, Aakash [1 ]
Dzwiniel, Tara [2 ]
Buller, Mark [3 ]
Koskinen, Lotta [4 ]
Suchowersky, Oksana [1 ,2 ,5 ,6 ]
机构：
[1] Univ Alberta, Fac Med & Dent, Dept Med Neurol, Edmonton, AB, Canada
[2] Univ Alberta, Fac Med & Dent, Dept Med Genet, Edmonton, AB, Canada
[3] Univ Alberta, Fac Med & Dent, Dept Radiol & Diagnost Imaging, Edmonton, AB, Canada
[4] Blueprint Genet, Helsinki, Finland
[5] Univ Alberta, Fac Med & Dent, Dept Pediat, Edmonton, AB, Canada
[6] Univ Alberta, Fac Med & Dent, Dept Psychiat, Edmonton, AB, Canada
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2020年 / 7卷 / 01期
基金：
美国国家卫生研究院;
关键词：
episodic ataxia; Joubert syndrome;
D O I：
10.1002/mdc3.12872
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：104 / 106
页数：3
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