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
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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