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Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome

Crossref DOI link: https://doi.org/10.1186/s12887-025-06180-9

Published Online: 2025-10-06

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Wu, Ruohao

Li, Xiaojuan

He, Zhanwen

Meng, Zhe

Liang, Liyang

Tang, Wenting
Funding

Funding for this research was provided by:

National Natural Science Foundation of China (81800155)
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Text and Data Mining valid from 2025-10-06

Version of Record valid from 2025-10-06
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Article History

Received: 16 May 2024

Accepted: 10 September 2025

First Online: 6 October 2025

Declarations

:

: All procedures of this study were done in agreement with the Declaration of Helsinki and approved by the Ethics Committee of Sun Yat-sen Memorial Hospital (Approval Number: SYSKY-2024–384-01). Informed written consent permissions for genetic investigation and participating in this research were obtained from all involved family members or their guardians.

: Informed written consent permissions of using individuals’ pictures or video materials containing detailed seizure/attack features (including facial and limbic symptoms) for publication were obtained from all involved family members or their guardians.

: The authors declare no competing interests.

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