Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG81
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Sarma AS et al.
The Journal of Gene Medicine, 2023
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov R et al.
Brain : a Journal of Neurology, 2021
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.
Horibata Y et al.
Journal of Lipid Research, 2018
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