| Autor: |
Li-Ping Zhang, Yu Jia, Yu-Ping Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Frontiers in Pediatrics, Vol 9 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2296-2360 |
| DOI: |
10.3389/fped.2021.722105 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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