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

Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children. 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. 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). Conclusion: Patients with infantile-onset paroxysmal binocular upward gaze should be considered to diagnose as PTU.

Automated summary

The study investigated the clinical manifestations and genotypes of four pediatric PTU patients in China, finding that they all had onset at early infancy and presented as binocular upward gaze, two of whom carried novel de novo variants in the CACNA1A gene. It is suggested that patients with infantile-onset paroxysmal binocular upward gaze should be considered for a diagnosis of PTU.