AUTHOR=Zhang Li-Ping , Jia Yu , Wang Yu-Ping 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=9

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.722105

DOI=10.3389/fped.2021.722105

ISSN=2296-2360

ABSTRACT=<p><bold>Objective:</bold> Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.</p><p><bold>Patients and Methods:</bold> 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><p><bold>Results:</bold> 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 <italic>de novo</italic> variant in the <italic>CACNA1A</italic> gene, c.4046C&gt;T (p.R1349X), and c.4415C&gt;T (p.S1472L).</p><p><bold>Conclusion:</bold> Patients with infantile-onset paroxysmal binocular upward gaze should be considered to diagnose as PTU.</p>