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Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

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收录情况： ◇ SCIE

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机构： [1]Department of Pediatric, Xuanwu Hospital, Capital Medical University, Beijing, China, [2]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

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关键词： paroxysmal tonic upgaze growth retardation CACNA1A mutation pediatrics next-generation sequencing

摘要：

Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.</p> Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and analyzed.</p> Results: The onset age of all four cases was at early infancy, and they presented as episodic binocular upward gaze with mild growth retardation. Two patients each carried a novel de novo variant in the CACNA1A gene, c.4046C>T (p.R1349X), and c.4415C>T (p.S1472L).</p> Conclusion: Patients with infantile-onset paroxysmal binocular upward gaze should be considered to diagnose as PTU.</p>

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中科院(CAS)分区：

出版当年[2020]版：

大类 | 3 区医学

小类 | 3 区儿科

最新[2023]版：

大类 | 3 区医学

小类 | 3 区儿科

JCR分区：

出版当年[2019]版：

Q1 PEDIATRICS

最新[2023]版：

Q2 PEDIATRICS

影响因子： 2.1 最新[2023版] 2.5 最新五年平均 2.634 出版当年[2019版] 2.76 出版当年五年平均 2.349 出版前一年[2018版] 3.418 出版后一年[2020版]

第一作者：

第一作者机构： [1]Department of Pediatric, Xuanwu Hospital, Capital Medical University, Beijing, China,

通讯作者：

通讯机构： [1]Department of Pediatric, Xuanwu Hospital, Capital Medical University, Beijing, China, [2]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

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