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QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature

Crossref DOI link: https://doi.org/10.1007/s11033-025-10574-4

Published Online: 2025-05-31

Published Print: 2025-12

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

Authors

Ahmad, Riaz

Naeem, Muhammad

Houlden, Henry
Funding

Funding for this research was provided by:

Higher Education Commision, Pakistan (IRSIP 52 BMS 22)
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Text and Data Mining valid from 2025-05-31

Version of Record valid from 2025-05-31
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Article History

Received: 26 January 2025

Accepted: 2 May 2025

First Online: 31 May 2025

Declarations

:

: The study was approved by the Institutional Review Board of Quaid-i-Azam University Islamabad (QAU/IRB/505).

: The authors declare no competing interests.

: Informed consent was obtained from the enrolled family to participate in the study.

: Informed consent was obtained from the enrolled families to allow publication of the clinical and diagnostic information collected in the study.

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