Associated Papers
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).
Pettinato F et al.
Biomedical Reports, 2025
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
Missense mutation in selenocysteine synthase causes cardio-respiratory failure and perinatal death in mice which can be compensated by selenium-independent GPX4.
Fradejas-Villar N et al.
Redox Biology, 2021
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Agamy O et al.
American Journal of Human Genetics, 2010
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