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
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
38622473 (PubMed )
Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1
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
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D.
Arrudi-Moreno M et al.
Medicina Clinica, 2021
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene.
Rong T et al.
Frontiers in Pediatrics, 2021
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