Associated Papers
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).
Pettinato F et al.
Biomedical Reports, 2025
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.
Zhao R et al.
Cerebellum (london, England), 2023
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery.
Santesmasses D et al.
International Journal of Molecular Sciences, 2021
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene.
Rong T et al.
Frontiers in Pediatrics, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.
Puppala AK et al.
Scientific Reports, 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K et al.
Journal of Human Genetics, 2016
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Anttonen AK et al.
Neurology, 2015
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