Associated Papers
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).
Pettinato F et al.
Biomedical Reports, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene.
Martínez-Martín Á et al.
Neurologia, 2022
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen X et al.
Frontiers in Genetics, 2021
34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1
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
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
van Dijk T et al.
Journal of Inherited Metabolic Disease, 2018
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