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Article

SEPHS1 Gene: A new master key for neurodevelopmental disorders.

Clinica chimica acta; international journal of clinical chemistry - 15 Aug 2024

Ahmed Mohamed Zakaria, Yang Jianli, Wen Jianping, Jia Feiyong, Banerjee Santasree

Abstract excerpt

The SEPHS1 (Selenophosphate Synthetase 1) gene encodes a critical enzyme for synthesizing selenophosphate, the active donor of selenium (Se) necessary for selenoprotein biosynthesis. Selenoproteins are vital for antioxidant defense, thyroid hormone metabolism, and cellular homeostasis. Mutations in SEPHS1 gene, are associated with neurodevelopmental disorders with developmental delay, poor growth, hypotonia, and...

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PMID: 38960024
DOI: 10.1016/j.cca.2024.119844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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