Associated Papers
Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.
Gburek-Augustat J et al.
Epilepsia Open, 2026
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
40004480 (PubMed )
Supplement: genes-16-00151-s001.zip › Table_S1.xlsx › clinvar_result
Two cases of type I sialidosis and a literature review.
Ding Y et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
38600684 (PubMed )
Supplement: jmd-23145-Supplementary-Table-1.pdf
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.
Coppola A et al.
Brain Sciences, 2020
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ et al.
Annals of Clinical and Translational Neurology, 2020
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.
Fan SP et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 2015
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